The instructions are about your baby has to accept the Center neonatal congenital metabolic disorders testing, the test results indicate suspected of having congenital metabolic disorders of the follow-up that can be used as your discussion with the physician of the additional information. Most important thing is that you can fully understand the information, please read carefully, if the note by the coordinator has any questions, please at Signature fully discussed before and physicians, physicians will be happy to answer your questions, let us work together for your baby's health efforts.
Congenital metabolic disorders related diseases brief introduction:
Your baby to accept the neonatal screening method is the use of "Tandem Mass tandem mass spectrometry," Analysis of measured blood spot filter paper samples in a variety of amino acids, organic acids and fatty acid metabolite concentrations, when a detected substance concentration is higher than standards, for further review. Significantly higher if the concentration of the phenomenon, should first determine whether the cases have clinical symptoms. Have to have symptoms immediately to confirm Hospital (Medical Center) examination of blood films collected samples immediately after treatment, after the job to confirm the diagnosis. Asymptomatic persons were to be confirmed diagnosis before deciding whether or not the treatment. Positive cases may have been because of liver dysfunction or liver caused by a temporary sophisticated slower rise in the concentration, or because of congenital metabolic enzymes caused by lack of. Therefore necessary to further confirm the diagnosis. Except to confirm the diagnosis of pediatric specialist physicians outside of clinical assessment, laboratory confirmation of the method of analysis by disease of blood glucose, blood pH, blood ammonia values, the blood-related amino acids and fatty acids, urine related metabolites content, if necessary, determination of epidermal cells in the relevant enzyme activity to confirm the diagnosis.
These congenital metabolic disorders refers to a group of hereditary diseases, because of genetic defects caused by disruption of normal metabolic function. Although the incidence of each disease is extremely low, but because a wide range, so the total incidence is not as low as imagined. Only alert clinicians to rely on early diagnosis, or through universal newborn screening to detect possible patients, children have a chance to receive appropriate treatment. Such diseases are usually asymptomatic after birth, there will be a period of time, to be followed by acute symptoms (such as vomiting, coma, liver failure) or other symptoms. Neonatal period should pay attention to symptoms including drowsiness, coma, apnea, corner bow anti Zhang, respiratory distress, low tension, poor sucking ability, such as severe jaundice. The main principle of treatment is timely and effective to prevent toxins continue to produce immediate and effective to remove toxic substances, and a special diet and special medicines to control the re-generated toxic substances. The principle of long-term care and the neonatal period is similar to the need to avoid the emergence of acute symptoms, particularly in certain situation such as serious infections, diarrhea, caused when the baby is not eating will add to the illness, in the event of treatment have to immediately. And the use of diet therapy, strict restrictions would cause metabolic disorders such as amino acids or fatty food intake, and would therefore need a doctor or dietitian's instructions, the consumption of a small number of general infant formula milk powder and milk formula supplemented with a special body required amino acids in order to maintain normal growth and physiological functions. Diet control patients receiving treatment, are required to perform periodic surveillance monitoring growth and development, intellectual development, blood-related amino acid concentrations, urinary metabolite concentrations relevant to verify whether the appropriate control diet. If early detection of early treatment can avoid the children intelligent life or physical disability, growth retardation and even death, such as the emergence of sequelae.
Melon acid metabolism-related diseases disorders brief introduction:
Melon acid (citrulline) continued to increase the concentration of acid metabolism may represent melon gene have abnormal acid metabolism melon melon acid-related diseases, including hyperlipidemia type I (citrullinemia type I), melon acid type II hyperlipidemia (citrullinemia type II), and spermine deficiency succinate (Argininosuccinic aciduria) and so on.
(1) melon Hyperlipemia acid (citrullinemia) (to detect substances: citrulline)
Melon Hyperlipemia acid into the first type and second type, are autosomal recessive genetic diseases.
The first type melon acid hyperlipidemia (Citrullinemia Type I) for the urea cycle of obstacles (Urea Cycle disorder) diseases, mainly because the body from the circulatory system in urea succinate spermine synthase (Argininosuccinate synthetase; ASS) function caused by abnormal. Ammonia metabolism in these patients can not be a result of high ammonia disease. Temporal variation in patients with significant morbidity, and some will be 24 hours of birth at the onset of symptoms, but also to early childhood or late onset case in point. If the incidence during the neonatal period, early symptoms are generally poor feeding, vomiting, drowsiness, restlessness, shortness of breath and so on. Their conditions may rapidly change, and show more serious neurological problem with the autonomic nervous system, in the absence of appropriate treatment, most patients will have complications or death. Early childhood onset patients, the symptoms in general and infant during the comparison, the comparison is not so serious. Patient diagnosis is usually already have obvious brain lesion. Up to now, and can not predict when will the incidence of patients.
Diagnostic methods, including testing blood ammonia values, blood melon acid value, and other related amino acids in blood and liver function tests. Need to do to confirm the diagnosis spermine succinate synthetase activity check, you can use liver cells or skin fibroblasts to do testing. Once the suspected or confirmed for this disease, in addition to have to pay attention to whether there are clinical symptoms, the need to limit protein intake, the use of special formula to add the necessary physical growth and development and use of special drugs to help the body from ammonia and maintain normal bodily functions.
Type II hyperlipidemia melon acid (Citrullinemia Type II), the neonatal period is divided into fine-type attack (Neonatal Hepatitis Associated with Choletasis, NICCD), and adult onset type (Adult-onset Type II Citrullinemia). This disease because the body are Citrin caused by lack of protein function.
Adult onset type of patients because of repeated episodes of high blood ammonia, caused by a sudden sense of anxiety, behavior abnormalities, memory loss or other neuropsychiatric symptoms, and may even lead to death. Generally speaking, the adult onset type occurs in 20-50 years old, may be accompanied by other liver problem.
Neonatal seizures in patients with type 1 at birth to five months will happen between cholestasis jaundice, abnormal liver function, the problem of high amino acid levels, galactosemia and symptoms such as fatty liver. In severe cases, lead to growth retardation, abnormal bleeding or more than anemia, hypoglycemia, hepatomegaly, and even liver failure. Treatment, including supplementary fat-soluble vitamins, as far as possible to maintain high protein high fat diet. Most of the patient's symptoms can be at 1 ~ 2 years old and will be eased. At present, for these patients whether or not to develop into adult-type attack is still unclear, long-term follow-up required in order to understand the evolution of disease and early treatment.
Diagnostic methods, including testing blood ammonia values, blood melon acid value, and other related amino acids in blood and liver function tests. At present, genetic tests done to confirm the diagnosis, about 80% of the cases, point mutations can be found.
The incidence of the disease gene mutation frequency in accordance with the estimate of the incidence of the Taiwan region is about 14000 per ㄧ. However, National Taiwan University Hospital Center, the experience of neonatal screening, we at 8 years of screening 550,000 newborns, identified as melon acid hyperlipidemia in children with a total of 24 people (incidence rate of 22,900 per ㄧ) , one of Guatemala suffer from serious acid Hyperlipemia total of the first type of 2 people, belong to type II hyperlipidemia melon acid attack type neonatal period in children with a total of 8 people.
(2) Spermine deficiency succinate (Argininosuccinic aciduria) (to detect substances: citrulline)
This is similar to the first type melon acid Hyperlipemia a congenital metabolic disorders, urea cycle due to dysfunction caused by high blood ammonia, mainly spermine enzyme succinate (Argininosuccinase), or spermine succinate hydrolase (Argininosuccinate Lyase) lack. Temporal variation in patients with significant morbidity, and some will be 24 hours of birth at the onset of symptoms, but also to early childhood or late onset case in point. If the incidence during the neonatal period, early symptoms are generally poor feeding, vomiting, drowsiness, restlessness, shortness of breath and so on. Their conditions may rapidly change, and show more serious neurological problem with the autonomic nervous system, in the absence of appropriate treatment, most patients will have complications or death. Early childhood onset patients, the symptoms in general and infant during the comparison, the comparison is not so serious. Patient diagnosis is usually already have obvious brain lesion. Up to now, and can not predict when will the incidence of patients.
Diagnostic methods, including testing blood ammonia values, blood melon acid value, and other related amino acids in blood and liver function tests. Patients with liver may swell, and even changes in fibrosis. Acid treatment of the principles and melon Hyperlipemia similar addition, arginine can also be added to improve the therapeutic effect.
Monday
Melon acid type II hyperlipidemia
Melon acid type II hyperlipidemia
(Citrullinemia typeΠ)
Written by physicians: doctors physician reviewer: Dr. Cow Daoming
Etiology:
Is a genetic disease, the second type of melon acid attacks and took part in adult onset of the neonatal period. Clinical characterization of him after the repeat. Adult phase of priming factor has drugs, infection, surgery, alcohol intake. As for the kids attack the neonatal period, they will be one that happened between May of neonatal intrahepatic cholestasis (NICCD) caused by the lack of this kind of material Citrin. NICCD block the outflow of bile, resulting in some nutrients can not be correctly processed. Some cases of neonatal-type, with symptoms and signs at one year would ease, but years later, some people will have adult-type diseases.
Incidence:
The second type occurs mainly in Japanese, the incidence rate was 1 / 10000 -20000 in East Asia or the Middle East also has the case report.
Genetic model:
Melon Hyperlipemia acid type and the second type, are autosomal recessive genetic diseases, said that parents with a mutation for the gene, no clinical symptoms due to the band, but each of its next-generation fetal regardless of gender will have 1 / 4 chance of suffering from this disease. The second type of gene SLC25A13, his mechanism is as follows: This gene is responsible for the manufacture of citrin, and citrin in the cell are responsible for when the transport protein (the formation and decomposition of sugar, protein manufacture, and urea cycle), were transported molecules also include nucleotide (DNA RNA is a major component). So this lack of citrin urea cycle so that cells can not be blocked from protein and nucleotide generation. So ammonia and other toxic substances has led to the accumulation of a variety of symptoms and signs (although this is in the adult type is the case, neonatal-type will not have the accumulation of ammonia.)
Characterization of clinical on:
Melon acid type II hyperlipidemia (Citrullinemia Type II):
Neonatal seizures occur in patients with type cholestasis jaundice, abnormal liver function, the problem of high amino acid levels, galactosemia and symptoms such as fatty liver. Then, there would have serious growth retardation, abnormal bleeding or more than anemia, hypoglycemia, hepatomegaly, and even liver failure. Most patients with symptoms can be at 1 ~ 2 years old and will be eased.
Some will turn into the adult type, the need for close follow-up attention.
Adult onset type of patients because of repeated episodes of high blood ammonia, caused by confusion, anxiety, memory loss, abnormal behavior (such as the tendency to attack, restlessness, hyperactivity), seizures, coma. These symptoms can be fatal.
Diagnosis:
Melon acid type II hyperlipidemia:
1. Test blood ammonia values, melon acid value, and related amino acids and liver function tests. 2. Genetic tests to confirm the diagnosis.
Treatment:
Melon acid type II hyperlipidemia:
The majority of patients with neonatal onset type, fat-soluble vitamin supplement + lactose-free and contains medium-chain fat (middle-chain triglycerides; MCT) the special milk
Adult onset type in patients with liver transplant if the treatment will be effective in preventing the occurrence of high ammonia problem and the problem corrected metabolic abnormalities. Study found that oral arginine will help reduce the accumulation of ammonia, and reduce heat and increase protein intake, you can improve hypertriglyceridemia (Hypertriglyceridemia).
In general, the urea cycle in patients with metabolic disorders (including melon Hyperlipemia acid type) to avoid the occurrence of high blood ammonia, preferably a low protein / high calorie diet, but this one diet but the lack of citrin protein function melon acid type II hyperlipidemia harmful; high-calorie diet, will increase the melon acid in patients with hyperlipidemia type II NADH generation, interference with normal urea synthesis, and stimulate the transport of citrate-malate, which lead to high blood ammonia, and fatty liver, high triglyceride disorder happened.
When the melon acid in patients with hyperlipidemia type II acute symptoms and cerebral edema (brain edema) of the problem, we should avoid the injection of glycerol and sugars (glycerol and fructose), so as not to increase the generation of NADH, which led to abnormal liver function and toxic substances; general recommendations are relatively safe Mannitol reduced selection pressure in the brain.
Prognosis:
Melon acid in patients with hyperlipidemia type II usually recoverable high-fat, high protein and low carbohydrate diet, fasting, or fasting in order to reduce the situation to avoid the occurrence of high ammonia problem. In addition should avoid alcoholic drinks or food, to avoid alcohol because alcohol stimulate dehydrogenation (alcohol dehydrogenase; ADH) activity in the liver and increased synthesis of NADH to produce harmful substances.
Prenatal genetic diagnosis: amniocentesis and chorionic sampling are good diagnosis.
(Citrullinemia typeΠ)
Written by physicians: doctors physician reviewer: Dr. Cow Daoming
Etiology:
Is a genetic disease, the second type of melon acid attacks and took part in adult onset of the neonatal period. Clinical characterization of him after the repeat. Adult phase of priming factor has drugs, infection, surgery, alcohol intake. As for the kids attack the neonatal period, they will be one that happened between May of neonatal intrahepatic cholestasis (NICCD) caused by the lack of this kind of material Citrin. NICCD block the outflow of bile, resulting in some nutrients can not be correctly processed. Some cases of neonatal-type, with symptoms and signs at one year would ease, but years later, some people will have adult-type diseases.
Incidence:
The second type occurs mainly in Japanese, the incidence rate was 1 / 10000 -20000 in East Asia or the Middle East also has the case report.
Genetic model:
Melon Hyperlipemia acid type and the second type, are autosomal recessive genetic diseases, said that parents with a mutation for the gene, no clinical symptoms due to the band, but each of its next-generation fetal regardless of gender will have 1 / 4 chance of suffering from this disease. The second type of gene SLC25A13, his mechanism is as follows: This gene is responsible for the manufacture of citrin, and citrin in the cell are responsible for when the transport protein (the formation and decomposition of sugar, protein manufacture, and urea cycle), were transported molecules also include nucleotide (DNA RNA is a major component). So this lack of citrin urea cycle so that cells can not be blocked from protein and nucleotide generation. So ammonia and other toxic substances has led to the accumulation of a variety of symptoms and signs (although this is in the adult type is the case, neonatal-type will not have the accumulation of ammonia.)
Characterization of clinical on:
Melon acid type II hyperlipidemia (Citrullinemia Type II):
Neonatal seizures occur in patients with type cholestasis jaundice, abnormal liver function, the problem of high amino acid levels, galactosemia and symptoms such as fatty liver. Then, there would have serious growth retardation, abnormal bleeding or more than anemia, hypoglycemia, hepatomegaly, and even liver failure. Most patients with symptoms can be at 1 ~ 2 years old and will be eased.
Some will turn into the adult type, the need for close follow-up attention.
Adult onset type of patients because of repeated episodes of high blood ammonia, caused by confusion, anxiety, memory loss, abnormal behavior (such as the tendency to attack, restlessness, hyperactivity), seizures, coma. These symptoms can be fatal.
Diagnosis:
Melon acid type II hyperlipidemia:
1. Test blood ammonia values, melon acid value, and related amino acids and liver function tests. 2. Genetic tests to confirm the diagnosis.
Treatment:
Melon acid type II hyperlipidemia:
The majority of patients with neonatal onset type, fat-soluble vitamin supplement + lactose-free and contains medium-chain fat (middle-chain triglycerides; MCT) the special milk
Adult onset type in patients with liver transplant if the treatment will be effective in preventing the occurrence of high ammonia problem and the problem corrected metabolic abnormalities. Study found that oral arginine will help reduce the accumulation of ammonia, and reduce heat and increase protein intake, you can improve hypertriglyceridemia (Hypertriglyceridemia).
In general, the urea cycle in patients with metabolic disorders (including melon Hyperlipemia acid type) to avoid the occurrence of high blood ammonia, preferably a low protein / high calorie diet, but this one diet but the lack of citrin protein function melon acid type II hyperlipidemia harmful; high-calorie diet, will increase the melon acid in patients with hyperlipidemia type II NADH generation, interference with normal urea synthesis, and stimulate the transport of citrate-malate, which lead to high blood ammonia, and fatty liver, high triglyceride disorder happened.
When the melon acid in patients with hyperlipidemia type II acute symptoms and cerebral edema (brain edema) of the problem, we should avoid the injection of glycerol and sugars (glycerol and fructose), so as not to increase the generation of NADH, which led to abnormal liver function and toxic substances; general recommendations are relatively safe Mannitol reduced selection pressure in the brain.
Prognosis:
Melon acid in patients with hyperlipidemia type II usually recoverable high-fat, high protein and low carbohydrate diet, fasting, or fasting in order to reduce the situation to avoid the occurrence of high ammonia problem. In addition should avoid alcoholic drinks or food, to avoid alcohol because alcohol stimulate dehydrogenation (alcohol dehydrogenase; ADH) activity in the liver and increased synthesis of NADH to produce harmful substances.
Prenatal genetic diagnosis: amniocentesis and chorionic sampling are good diagnosis.
Etiology
For congenital metabolic disorders of genetic disease, patients melon acid metabolism (citrulline) of the gene mutation, resulting in de acid concentrations continued to rise, resulting in high blood ammonia and other clinical abnormalities. Melon acid metabolism-related diseases, including abnormal; melon acid type hyperlipidemia (citrullinemia type I), melon acid type II hyperlipidemia (citrullinemia type II), and spermine succinate enzyme deficiency (Argininosuccinic aciduria ) and so on.
Incidence:
At present, melon acid Hyperlipemia notice has been included as a rare disease in our country, Taiwan, the incidence is about 1 / 14000.
By neonatal screening center at National Taiwan University Hospital experience, we at 5 years, screening of 330,000 newborns, identified as melon acid hyperlipidemia in children with a total of 6 people (incidence rate of 1 / 54852), belong to one of the second type melon acid attack type neonatal hyperbilirubinemia in children with a total of 3 people.
Genetic model:
Melon Hyperlipemia acid type and the second type, are autosomal recessive genetic diseases, said that parents with a mutation for the gene, no clinical symptoms due to the band, but each of its next-generation fetal regardless of gender will have 1 / 4 chance of suffering from this disease.
Characterization of clinical on:
Melon acid type hyperlipidemia (Citrullinemia Type I):
Obstacles for the urea cycle (Urea Cycle disorder) diseases due to spermine synthase succinate (Argininosuccinate synthetase; ASS) function caused by abnormal; patients can not be transformed into melon acid succinate spermine, resulting in de acid accumulation and high blood ammonia disease.
Temporal variation in patients with significant morbidity, and some will be 24 hours of birth at the onset of symptoms, but also to early childhood or late onset case in point. If the incidence during the neonatal period, early symptoms are generally poor feeding, vomiting, drowsiness, restlessness, shortness of breath and so on, their condition would normally be quickly changed, and show more serious neurological problem with the autonomic nervous system , if there is no proper treatment, most patients will have complications or death.
Early childhood onset patients, the symptoms in general and infant during the comparison, the comparison is not so serious. Patient diagnosis is usually already have obvious brain lesion. Up to now, and can not predict when will the incidence of patients.
Melon acid type II hyperlipidemia (Citrullinemia Type II):
Since the body of this type are Citrin caused by lack of protein function. Neonatal period can be broken down into type attack (Neonatal Hepatitis Associated with Choletasis; NICCD), and adult onset type (Adult-onset Type II Citrullinemia).
Neonatal seizures in patients with type 1 at birth to five months will happen between cholestasis jaundice, abnormal liver function, the problem of high amino acid levels, galactosemia and symptoms such as fatty liver. In severe cases, lead to growth retardation, abnormal bleeding or more than anemia, hypoglycemia, hepatomegaly, and even liver failure. Treatment, including supplementary fat-soluble vitamins, as far as possible to maintain high protein high fat diet. Most patients with symptoms can be at 1 ~ 2 years old and will be eased.
At present, for these patients whether or not to develop into adult-type attack is still unclear, long-term follow-up required in order to understand the evolution of disease and early treatment.
Adult onset type of patients because of repeated episodes of high blood ammonia, caused by a sudden sense of anxiety, behavior abnormalities, memory loss or other neuropsychiatric symptoms, and may even lead to pumping sustain or death. Generally speaking, the adult onset type occurs in 20 ~ 50 years old, and may be accompanied by other liver problem.
Diagnosis:
Melon acid hyperlipidemia type:
Diagnostic methods, including testing blood ammonia values, melon acid value, and other related amino acids and liver function tests. Way to confirm the diagnosis need to liver cells or skin fibroblasts to spermidine synthase activity of succinate inspection.
Melon acid type II hyperlipidemia:
Diagnostic methods, including testing blood ammonia values, melon acid value, and other related amino acids and liver function tests. At present, genetic tests done to confirm the diagnosis, about 80% of the cases, point mutations can be found.
Treatment:
Melon acid hyperlipidemia type:
When the acute increase in blood ammonia when necessary to hemodialysis to remove ammonia. High blood ammonia of time if more than 24 hours will result in neonatal brain injury, peritoneal dialysis can not be effective to remove ammonia. Newborn hemodialysis are highly professional medical acts, have required special equipment, and has experience in cardiac surgery, pediatric nephrology and pediatric genetic general practitioners in order to achieve the mission of the co-operation.
Patient situation more stable, may be the use of special drugs (phenylacetate) assist the body from ammonia. To be particularly noted that the supply of heat and moisture sufficient to reduce protein catabolism and to avoid increased intracranial pressure.
At long-term treatment, the patients need to limit protein intake, the use of special formula to add the necessary growth and development and use of special drugs to help the ammonia emission, and regular monitoring of ammonia, such as numerical. Peacetime should also avoid infection, to prevent the problem of high blood ammonia happen.
Melon acid type II hyperlipidemia:
The majority of patients with neonatal seizures, through the fat-soluble vitamin supplement, and the use of lactose-free and contains medium-chain fat (middle-chain triglycerides; MCT) the special milk powder, the average in the 12 months of age will be able to achieve a good outcome of the treatment ; a small number of cases even without specific treatment, symptoms can be gradually improved.
Adult onset type in patients with liver transplant if the treatment will be effective in preventing the occurrence of high ammonia problem and the problem corrected metabolic abnormalities. Study found that oral arginine will help reduce the accumulation of ammonia, and reduce heat and increase protein intake, you can improve hypertriglyceridemia (Hypertriglyceridemia).
In general, the urea cycle in patients with metabolic disorders (including melon Hyperlipemia acid type) to avoid the occurrence of high blood ammonia, preferably a low protein / high calorie diet, but this one diet but the lack of citrin protein function melon acid type II hyperlipidemia harmful; high-calorie diet, will increase the melon acid in patients with hyperlipidemia type II NADH generation, interference with normal urea synthesis, and stimulate the transport of citrate-malate, which lead to high blood ammonia, and fatty liver, high triglyceride disorder happened.
When the melon acid in patients with hyperlipidemia type II acute symptoms and cerebral edema (brain edema) of the problem, we should avoid the injection of glycerol and sugars (glycerol and fructose), so as not to increase the generation of NADH, which led to abnormal liver function and toxic substances; general recommendations are relatively safe Mannitol reduced selection pressure in the brain.
Prognosis:
Melon acid in patients with hyperlipidemia type usually should avoid excessive intake of protein, and the occurrence of infection and should be back to regular attendance tracking, to monitor the growth and development, ammonia and related amino acids necessary for the value, in order to maintain normal physiological requirements, in peacetime should be aware of high blood ammonia imminent Characterization; include: awareness of changes, headache, bad spirit (lethargy), drowsiness (nausea), vomiting, poor appetite, poor feeding (refusal to feed) and ankle cramps (ankle clonus) and so on. When the more serious diseases, the liver transplant of disease will be of great help.
Melon acid in patients with hyperlipidemia type II usually recoverable high-fat, high protein and low carbohydrate diet, fasting, or fasting in order to reduce the situation to avoid the occurrence of high ammonia problem. In addition should avoid alcoholic drinks or food, to avoid alcohol because alcohol stimulate dehydrogenation (alcohol dehydrogenase; ADH) activity in the liver and increased synthesis of NADH to produce harmful substances.
Incidence:
At present, melon acid Hyperlipemia notice has been included as a rare disease in our country, Taiwan, the incidence is about 1 / 14000.
By neonatal screening center at National Taiwan University Hospital experience, we at 5 years, screening of 330,000 newborns, identified as melon acid hyperlipidemia in children with a total of 6 people (incidence rate of 1 / 54852), belong to one of the second type melon acid attack type neonatal hyperbilirubinemia in children with a total of 3 people.
Genetic model:
Melon Hyperlipemia acid type and the second type, are autosomal recessive genetic diseases, said that parents with a mutation for the gene, no clinical symptoms due to the band, but each of its next-generation fetal regardless of gender will have 1 / 4 chance of suffering from this disease.
Characterization of clinical on:
Melon acid type hyperlipidemia (Citrullinemia Type I):
Obstacles for the urea cycle (Urea Cycle disorder) diseases due to spermine synthase succinate (Argininosuccinate synthetase; ASS) function caused by abnormal; patients can not be transformed into melon acid succinate spermine, resulting in de acid accumulation and high blood ammonia disease.
Temporal variation in patients with significant morbidity, and some will be 24 hours of birth at the onset of symptoms, but also to early childhood or late onset case in point. If the incidence during the neonatal period, early symptoms are generally poor feeding, vomiting, drowsiness, restlessness, shortness of breath and so on, their condition would normally be quickly changed, and show more serious neurological problem with the autonomic nervous system , if there is no proper treatment, most patients will have complications or death.
Early childhood onset patients, the symptoms in general and infant during the comparison, the comparison is not so serious. Patient diagnosis is usually already have obvious brain lesion. Up to now, and can not predict when will the incidence of patients.
Melon acid type II hyperlipidemia (Citrullinemia Type II):
Since the body of this type are Citrin caused by lack of protein function. Neonatal period can be broken down into type attack (Neonatal Hepatitis Associated with Choletasis; NICCD), and adult onset type (Adult-onset Type II Citrullinemia).
Neonatal seizures in patients with type 1 at birth to five months will happen between cholestasis jaundice, abnormal liver function, the problem of high amino acid levels, galactosemia and symptoms such as fatty liver. In severe cases, lead to growth retardation, abnormal bleeding or more than anemia, hypoglycemia, hepatomegaly, and even liver failure. Treatment, including supplementary fat-soluble vitamins, as far as possible to maintain high protein high fat diet. Most patients with symptoms can be at 1 ~ 2 years old and will be eased.
At present, for these patients whether or not to develop into adult-type attack is still unclear, long-term follow-up required in order to understand the evolution of disease and early treatment.
Adult onset type of patients because of repeated episodes of high blood ammonia, caused by a sudden sense of anxiety, behavior abnormalities, memory loss or other neuropsychiatric symptoms, and may even lead to pumping sustain or death. Generally speaking, the adult onset type occurs in 20 ~ 50 years old, and may be accompanied by other liver problem.
Diagnosis:
Melon acid hyperlipidemia type:
Diagnostic methods, including testing blood ammonia values, melon acid value, and other related amino acids and liver function tests. Way to confirm the diagnosis need to liver cells or skin fibroblasts to spermidine synthase activity of succinate inspection.
Melon acid type II hyperlipidemia:
Diagnostic methods, including testing blood ammonia values, melon acid value, and other related amino acids and liver function tests. At present, genetic tests done to confirm the diagnosis, about 80% of the cases, point mutations can be found.
Treatment:
Melon acid hyperlipidemia type:
When the acute increase in blood ammonia when necessary to hemodialysis to remove ammonia. High blood ammonia of time if more than 24 hours will result in neonatal brain injury, peritoneal dialysis can not be effective to remove ammonia. Newborn hemodialysis are highly professional medical acts, have required special equipment, and has experience in cardiac surgery, pediatric nephrology and pediatric genetic general practitioners in order to achieve the mission of the co-operation.
Patient situation more stable, may be the use of special drugs (phenylacetate) assist the body from ammonia. To be particularly noted that the supply of heat and moisture sufficient to reduce protein catabolism and to avoid increased intracranial pressure.
At long-term treatment, the patients need to limit protein intake, the use of special formula to add the necessary growth and development and use of special drugs to help the ammonia emission, and regular monitoring of ammonia, such as numerical. Peacetime should also avoid infection, to prevent the problem of high blood ammonia happen.
Melon acid type II hyperlipidemia:
The majority of patients with neonatal seizures, through the fat-soluble vitamin supplement, and the use of lactose-free and contains medium-chain fat (middle-chain triglycerides; MCT) the special milk powder, the average in the 12 months of age will be able to achieve a good outcome of the treatment ; a small number of cases even without specific treatment, symptoms can be gradually improved.
Adult onset type in patients with liver transplant if the treatment will be effective in preventing the occurrence of high ammonia problem and the problem corrected metabolic abnormalities. Study found that oral arginine will help reduce the accumulation of ammonia, and reduce heat and increase protein intake, you can improve hypertriglyceridemia (Hypertriglyceridemia).
In general, the urea cycle in patients with metabolic disorders (including melon Hyperlipemia acid type) to avoid the occurrence of high blood ammonia, preferably a low protein / high calorie diet, but this one diet but the lack of citrin protein function melon acid type II hyperlipidemia harmful; high-calorie diet, will increase the melon acid in patients with hyperlipidemia type II NADH generation, interference with normal urea synthesis, and stimulate the transport of citrate-malate, which lead to high blood ammonia, and fatty liver, high triglyceride disorder happened.
When the melon acid in patients with hyperlipidemia type II acute symptoms and cerebral edema (brain edema) of the problem, we should avoid the injection of glycerol and sugars (glycerol and fructose), so as not to increase the generation of NADH, which led to abnormal liver function and toxic substances; general recommendations are relatively safe Mannitol reduced selection pressure in the brain.
Prognosis:
Melon acid in patients with hyperlipidemia type usually should avoid excessive intake of protein, and the occurrence of infection and should be back to regular attendance tracking, to monitor the growth and development, ammonia and related amino acids necessary for the value, in order to maintain normal physiological requirements, in peacetime should be aware of high blood ammonia imminent Characterization; include: awareness of changes, headache, bad spirit (lethargy), drowsiness (nausea), vomiting, poor appetite, poor feeding (refusal to feed) and ankle cramps (ankle clonus) and so on. When the more serious diseases, the liver transplant of disease will be of great help.
Melon acid in patients with hyperlipidemia type II usually recoverable high-fat, high protein and low carbohydrate diet, fasting, or fasting in order to reduce the situation to avoid the occurrence of high ammonia problem. In addition should avoid alcoholic drinks or food, to avoid alcohol because alcohol stimulate dehydrogenation (alcohol dehydrogenase; ADH) activity in the liver and increased synthesis of NADH to produce harmful substances.
The lives of a small fighter - a rare disease case
Hung little brother just born to accept the newborn blood screening, by the National Taiwan University College of the preliminary examination to determine Hung boy suspected of suffering from "acid Hyperlipemia melon", in order to further confirm the disease, Hung Hung father and mother with a flood younger brother to the Kaohsiung Medical University to accept a more detailed blood test, but blood is not a smooth process, so that Hong mother was very distressed.
Now attending kindergartens, Hung boy, there is no associated symptoms, very healthy and lively. But because of some "acid Hyperlipemia melon" at an early age of the patients with less obvious symptoms, in order to flood the health of younger brother, the doctor still recommends that Hung boy continued to receive follow-up treatment, if the future has symptoms can also be timely grasp of the situation, not delay treatment.
Understanding of "acid Hyperlipemia melon"
Melon acid hyperlipidemia are a urea cycle disorder, it has been speculated that the incidence is approximately 1 / 14000, but according to neonatal screening center at National Taiwan University, five years experience, the actual incidence rate of 1 / 54852. Probability of the disease and no gender difference. Melon Hyperlipemia acid can be divided into two types, variable age of onset, most commonly for the neonatal period. Whether it is the first melon acid hyperlipidemia or type II, are autosomal recessive genetic disease, both parents are asymptomatic carrier, and each birth, a 1 / 4 chance of giving birth to children, Has 1 / 2 chance of giving birth to carrier, has 1 / 4 chance of giving birth to normal children. Melon Hyperlipemia acid at the ninth gene on chromosome long arm, has found at least 20 point mutations.
A. de acid type hyperlipidemia
The causes of this type are in vivo urea cycle succinate spermine synthesis gene mutation, the dysfunction, the patient can not be ammonia metabolism and lead to high blood ammonia disease, age of onset is usually very different, so far still can not predict patients at When the disease. If the patients have onset in the neonatal period, it will result in poor feeding, vomiting, drowsiness, irritability, anxiety and shortness of breath and other symptoms, their condition will rapidly change, and the more serious neurological problem. If it has not received proper treatment, patients with complications or even death. If the patients only at early childhood onset, compared to the early onset patients, symptoms are usually relatively minor, but the time of diagnosis is usually already apparent brain lesions.
B. de acid type II hyperlipidemia
Attack can be divided into the neonatal period and adult onset type, this type of lemon for the in vivo protein function caused by the lack of.
a. neonatal onset type
At one to five months after the birth of, the patient will happen cholestasis type jaundice, liver dysfunction, resulting in a wide range of high amino acid levels, galactosemia and other cases with fatty liver. Would result in severe neonatal growth retardation, anemia or abnormal bleeding is more than, hypoglycemia, hepatomegaly, or liver failure. Symptoms in most patients at one to two years of age will gradually ease, but is still unknown whether these patients will turn into adult onset type, need to know long-term fixed-seizure patients and early treatment changes. Treatment need to add fat-soluble vitamins and as much as possible to maintain high protein high fat diet.
b. adult onset type
Usually seen in the 20-50 years old, patients over and over again because of high ammonia and the emergence of consciousness, bizarre behavior, memory loss or other psychiatric symptoms, and may even or death. Patients may be at the same time have other liver problem.
No matter what type of patients, when symptoms usually first measurement of blood ammonia concentration, and then measuring the concentration of blood amino acids, especially the melon and other related amino acid, and check the liver function. Finally can also refer to the serum amino acid and urine organic acid analysis. For the first type melon acid in patients with hyperlipidemia, take measurements to confirm the diagnosis succinate spermine synthesis? Activity can be used to liver cells or skin fibroblasts to examine. As for the second type melon acid in patients with hyperlipidemia, the current can make use of genetic testing to confirm the diagnosis, some patients have point mutation can be found.
Melon acid target for the treatment of hyperlipidemia amendment biochemical imbalance and nutritional needs to maintain in principle to low-protein diet, reduce ammonia-based medicine with a special formula. At high ammonia period, the patient must be immediately restricted protein diet to strengthen the non-protein energy sources, to avoid compensatory disorders. More serious, hemodialysis is another fast way to remove ammonia.
A. low-protein diet
Patients must be in accordance with age and disease severity to adjust the protein intake, so each patient's protein requirement varies.
Age of protein recommended intake (g / kg / day)
Within six months after the birth of ≧ 1.5
Preschool period of 1.2 ~ 1.5
School-age 1.0
Adolescent ≦ 0.5
B. lowering drugs ammonia
Melon acid in patients with hyperlipidemia may, by a drug to get rid of the waste ammonia.
a. benzoin sodium salt
Combined with glycine to form hippuric acid after the liquid material discharged by the urine.
Recommended intravenous dose of 250 mg / kg / day; oral 375 mg / kg / day, taking three to four times a day, and with low-protein diet. But the drug may lead to patients have nausea, vomiting, tinnitus, or side effects such as visual impairment.
b. Benzene butyric acid sodium salt
In the liver will be oxidized to benzene acetic acid, and glutamate can be combined with urine discharged by the Express. The recommended dosage of 0.5 mg / kg / day.
c. arginine
Borrow after arginine, decomposed into urea and ornithine. If patients in stable condition, oral recommended dosage is 400 ~ 700 mg / kg / day; but in the case of high blood ammonia, then given 600 mg / kg / day.
C. special milk
Prognosis of patients and age and the condition relating to the time of diagnosis. During the neonatal period will attack patients, the prognosis is poor after the pass, and most patients have some obvious complications with the necessary long-term treatment with physicians and dietitians, periodic biochemical examination, recording of height and weight development in order to patients continued to master the situation.
Now attending kindergartens, Hung boy, there is no associated symptoms, very healthy and lively. But because of some "acid Hyperlipemia melon" at an early age of the patients with less obvious symptoms, in order to flood the health of younger brother, the doctor still recommends that Hung boy continued to receive follow-up treatment, if the future has symptoms can also be timely grasp of the situation, not delay treatment.
Understanding of "acid Hyperlipemia melon"
Melon acid hyperlipidemia are a urea cycle disorder, it has been speculated that the incidence is approximately 1 / 14000, but according to neonatal screening center at National Taiwan University, five years experience, the actual incidence rate of 1 / 54852. Probability of the disease and no gender difference. Melon Hyperlipemia acid can be divided into two types, variable age of onset, most commonly for the neonatal period. Whether it is the first melon acid hyperlipidemia or type II, are autosomal recessive genetic disease, both parents are asymptomatic carrier, and each birth, a 1 / 4 chance of giving birth to children, Has 1 / 2 chance of giving birth to carrier, has 1 / 4 chance of giving birth to normal children. Melon Hyperlipemia acid at the ninth gene on chromosome long arm, has found at least 20 point mutations.
A. de acid type hyperlipidemia
The causes of this type are in vivo urea cycle succinate spermine synthesis gene mutation, the dysfunction, the patient can not be ammonia metabolism and lead to high blood ammonia disease, age of onset is usually very different, so far still can not predict patients at When the disease. If the patients have onset in the neonatal period, it will result in poor feeding, vomiting, drowsiness, irritability, anxiety and shortness of breath and other symptoms, their condition will rapidly change, and the more serious neurological problem. If it has not received proper treatment, patients with complications or even death. If the patients only at early childhood onset, compared to the early onset patients, symptoms are usually relatively minor, but the time of diagnosis is usually already apparent brain lesions.
B. de acid type II hyperlipidemia
Attack can be divided into the neonatal period and adult onset type, this type of lemon for the in vivo protein function caused by the lack of.
a. neonatal onset type
At one to five months after the birth of, the patient will happen cholestasis type jaundice, liver dysfunction, resulting in a wide range of high amino acid levels, galactosemia and other cases with fatty liver. Would result in severe neonatal growth retardation, anemia or abnormal bleeding is more than, hypoglycemia, hepatomegaly, or liver failure. Symptoms in most patients at one to two years of age will gradually ease, but is still unknown whether these patients will turn into adult onset type, need to know long-term fixed-seizure patients and early treatment changes. Treatment need to add fat-soluble vitamins and as much as possible to maintain high protein high fat diet.
b. adult onset type
Usually seen in the 20-50 years old, patients over and over again because of high ammonia and the emergence of consciousness, bizarre behavior, memory loss or other psychiatric symptoms, and may even or death. Patients may be at the same time have other liver problem.
No matter what type of patients, when symptoms usually first measurement of blood ammonia concentration, and then measuring the concentration of blood amino acids, especially the melon and other related amino acid, and check the liver function. Finally can also refer to the serum amino acid and urine organic acid analysis. For the first type melon acid in patients with hyperlipidemia, take measurements to confirm the diagnosis succinate spermine synthesis? Activity can be used to liver cells or skin fibroblasts to examine. As for the second type melon acid in patients with hyperlipidemia, the current can make use of genetic testing to confirm the diagnosis, some patients have point mutation can be found.
Melon acid target for the treatment of hyperlipidemia amendment biochemical imbalance and nutritional needs to maintain in principle to low-protein diet, reduce ammonia-based medicine with a special formula. At high ammonia period, the patient must be immediately restricted protein diet to strengthen the non-protein energy sources, to avoid compensatory disorders. More serious, hemodialysis is another fast way to remove ammonia.
A. low-protein diet
Patients must be in accordance with age and disease severity to adjust the protein intake, so each patient's protein requirement varies.
Age of protein recommended intake (g / kg / day)
Within six months after the birth of ≧ 1.5
Preschool period of 1.2 ~ 1.5
School-age 1.0
Adolescent ≦ 0.5
B. lowering drugs ammonia
Melon acid in patients with hyperlipidemia may, by a drug to get rid of the waste ammonia.
a. benzoin sodium salt
Combined with glycine to form hippuric acid after the liquid material discharged by the urine.
Recommended intravenous dose of 250 mg / kg / day; oral 375 mg / kg / day, taking three to four times a day, and with low-protein diet. But the drug may lead to patients have nausea, vomiting, tinnitus, or side effects such as visual impairment.
b. Benzene butyric acid sodium salt
In the liver will be oxidized to benzene acetic acid, and glutamate can be combined with urine discharged by the Express. The recommended dosage of 0.5 mg / kg / day.
c. arginine
Borrow after arginine, decomposed into urea and ornithine. If patients in stable condition, oral recommended dosage is 400 ~ 700 mg / kg / day; but in the case of high blood ammonia, then given 600 mg / kg / day.
C. special milk
Prognosis of patients and age and the condition relating to the time of diagnosis. During the neonatal period will attack patients, the prognosis is poor after the pass, and most patients have some obvious complications with the necessary long-term treatment with physicians and dietitians, periodic biochemical examination, recording of height and weight development in order to patients continued to master the situation.
Citrullinemia
Melon Hyperlipemia acid urea cycle metabolic abnormalities are one of these diseases are caused because of the lack of enzymes. Urea cycle, melon acid (citrulline) are Carbamoyl phosphate and Ornithine (Ornithine) after a product. Under normal circumstances, melon acid succinate further by spermidine synthase (argininosuccinate synthetase) and aspartic acid (asparate) combine to produce succinate spermine (argininosucinate, AS). Each molecule of urea contains two nitrogen atoms (N), one from ammonia (NH3), and one from aspartic acid (asparate). argininosuccinate synthetase resulted in the lack of melon acid accumulation, known as the melon acid type hyperlipidemia.
Most nitrogen from protein and amino acid metabolism, and urea nitrogen cycle is the body to remove the main path. Mainly in the liver urea cycle performance, the response has mostly mitochondrial, have a part in the cytoplasm are inside, be able to put a toxic substance (ammonia), converted into a more non-toxic substances (urea), then by the urine Medium discharged. Mitochondria may affect the metabolism of urea generation, lead to high blood ammonia disease. Overall speaking, urea cycle by N-acetyl glutamic acid (N-acetylglutamate, NAG) control the speed of synthesis, the enzyme catalyst (NAG) open the ammonia into the urea cycle.
Argininosuccinate synthetase general will be transported to the brain, kidney, skin and fibrous tissue the role of mother cells, so melon acid can also be other than by metabolism in the liver. Melon acid in patients with hyperlipidemia a genetic defect will be manifested in these organizations. Urea cycle, melon aspartic acid and lysine combination, the second waste nitrogen molecules to enter the circle; when the urea cycle of damage, resulting in the ability of ammonia excretion decreased by 50%, have high blood ammonia in patients with disease situation .
Genetic model
Japan had cases in the adults find some kind of specific, previously undetected and treatment of hyperlipidemia melon acid, but also has patients after 48-year-old was found. Since some patients have developmental delay period, but most patients are only the incidence of symptoms. Melon acid so the incidence of hyperlipidemia in patients with age and ornithine amino-acyl transfer A deficiency (Orinithine transcarbamylase deficiency) are as unpredictable. Mortality and morbidity rates are high.
Melon acid hyperlipidemia for autosomal recessive genetic disease, both parents are carriers of the recessive (carrier: the Parent with a defective gene, but no clinical symptoms), the patient must at the same time with two a defect gene (from the Parent a) before the incidence. As long as both parents are carriers, 25% chance of giving birth to children, has 50% chance of a child for the carriers. The disease has no gender-neutral probability.
Melon acid Hyperlipemia ninth pathogenicity gene located on chromosome long arm (9q34). Have at least 20 point mutations have been discovered. Age at onset urea cycle and other metabolic disorders the same as the incidence of indeterminate age, the most common age of onset of the neonatal period. The neonatal period did not grow up the children with treatment, may have the consequences of mental retardation.
Symptoms
Symptoms of high blood ammonia, along with lack of appetite, vomiting, fatigue, irritability, cramps; cerebral edema and coma if not treated in time may cause death. Incidence of the neonatal period is usually, but symptoms may be a few days or weeks before unnoticed. The severity of clinical symptoms and rely on their individual circumstances vary. In general there may be high ammonia conditions, the growth of the poor. If cerebral edema may result in papilledema (papilledema), intracranial pressure will also increase. Lung area, there may be shortness of breath or too strong case may be will be late apnea or failure. Moderate hepatomegaly may also happen phenomenon. Neural connection, there may be poor coordination disorder power sports (dysdiadochokinesia), the tension is too low or too strong, ataxia, tremor, cramps, drowsiness. Complications mainly neuropathy, including mental retardation, acute high blood ammonia coma, or even death.
Diagnosis
The symptoms of patients, first and foremost is the measurement of blood ammonia (NH3) concentrations, useful for diagnosis on biochemical values. Another is a measure of blood amino acid concentration, incidence of the patients, their blood will be obvious melon acid increased to 1000-5000 M (normal 10-20 M). Urinary concentrations of amino acids, organic acid concentration and urinary orotic acid (orotic acid) can also be used as the reference value. Patients with urine orotic acid concentrations rise.
Measurement of skin cells of fibrous tissue Argininosuccinate synthetase, could provide specific biochemical diagnosis.
Prenatal diagnosis
Do amniocentesis (amniocytes) or chorionic villi to do molecular diagnostics.
Treatment
The goal of treatment is to correct the biochemical imbalance and to ensure that nutritional requirements. Under the situation of high ammonia immediately restricted diet of protein, strengthen the non-protein energy sources, to avoid compensatory disorders. Serious, it is possible to quickly remove ammonia hemodialysis.
Low-protein diet
According to patient's age and disease severity of the decision of protein intake, each patient's needs are quite different. Six months ago, because it is fast-growing period, patients may need more protein or 1.5g/kg/day; preschool period, protein intake is usually reduced to 1.2 ~ 1.5g/kg/day; school-age children may be to fell 1 g / kg / day. After puberty, the amount of protein may be less than 0.5g/kg/day.
Drug
Drugs to provide an alternative way to rule out the possibility of waste nitrogen.
1.Sodium benzoate (Ucephan): with glycine (glycine) combine to form hippuric acid (hippurate), and then discharged by the urine. Every one mole of benzoate to remove one mole of nitrogen. Usually give the IV dose is 250 mg / kg / day; oral dose of 375mg/kg/day, minutes 3-4 times taking it and with a low-protein diet. Side effects of nausea, vomiting, tinnitus, visual impairment.
2.Sodium phenylbutyrate (Buphenyl): in the liver to be oxidized to phenylacetate, and then combined with glutamine, the final product phenylacetylglutamine discharged through the urine. 1 mole per 2 mole of phenylbutyrate to remove nitrogen. Given dose is 0.5 mg / kg / day.
3. Arginine (Arginine): by the enzyme arginase (arginase) after role, each 1mole arginine 1mole broken down into urea and ornithine 1mole of (ornithine). High blood ammonia circumstances, given doses of 600 mg / kg / day. Give children with a stable oral dose of 400-700 mg / kg / day.
Prognosis of patients and age and the condition relating to the time of diagnosis. At the neonatal period there are symptoms of the patients, their prognosis is poor, the majority of patients will have some obvious complications. Required long-term cooperation with physicians and nutritionists with the continued out-patient follow-up biochemical tests conducted on a regular basis, recording height and weight development in order to grasp the situation of patients.
Most nitrogen from protein and amino acid metabolism, and urea nitrogen cycle is the body to remove the main path. Mainly in the liver urea cycle performance, the response has mostly mitochondrial, have a part in the cytoplasm are inside, be able to put a toxic substance (ammonia), converted into a more non-toxic substances (urea), then by the urine Medium discharged. Mitochondria may affect the metabolism of urea generation, lead to high blood ammonia disease. Overall speaking, urea cycle by N-acetyl glutamic acid (N-acetylglutamate, NAG) control the speed of synthesis, the enzyme catalyst (NAG) open the ammonia into the urea cycle.
Argininosuccinate synthetase general will be transported to the brain, kidney, skin and fibrous tissue the role of mother cells, so melon acid can also be other than by metabolism in the liver. Melon acid in patients with hyperlipidemia a genetic defect will be manifested in these organizations. Urea cycle, melon aspartic acid and lysine combination, the second waste nitrogen molecules to enter the circle; when the urea cycle of damage, resulting in the ability of ammonia excretion decreased by 50%, have high blood ammonia in patients with disease situation .
Genetic model
Japan had cases in the adults find some kind of specific, previously undetected and treatment of hyperlipidemia melon acid, but also has patients after 48-year-old was found. Since some patients have developmental delay period, but most patients are only the incidence of symptoms. Melon acid so the incidence of hyperlipidemia in patients with age and ornithine amino-acyl transfer A deficiency (Orinithine transcarbamylase deficiency) are as unpredictable. Mortality and morbidity rates are high.
Melon acid hyperlipidemia for autosomal recessive genetic disease, both parents are carriers of the recessive (carrier: the Parent with a defective gene, but no clinical symptoms), the patient must at the same time with two a defect gene (from the Parent a) before the incidence. As long as both parents are carriers, 25% chance of giving birth to children, has 50% chance of a child for the carriers. The disease has no gender-neutral probability.
Melon acid Hyperlipemia ninth pathogenicity gene located on chromosome long arm (9q34). Have at least 20 point mutations have been discovered. Age at onset urea cycle and other metabolic disorders the same as the incidence of indeterminate age, the most common age of onset of the neonatal period. The neonatal period did not grow up the children with treatment, may have the consequences of mental retardation.
Symptoms
Symptoms of high blood ammonia, along with lack of appetite, vomiting, fatigue, irritability, cramps; cerebral edema and coma if not treated in time may cause death. Incidence of the neonatal period is usually, but symptoms may be a few days or weeks before unnoticed. The severity of clinical symptoms and rely on their individual circumstances vary. In general there may be high ammonia conditions, the growth of the poor. If cerebral edema may result in papilledema (papilledema), intracranial pressure will also increase. Lung area, there may be shortness of breath or too strong case may be will be late apnea or failure. Moderate hepatomegaly may also happen phenomenon. Neural connection, there may be poor coordination disorder power sports (dysdiadochokinesia), the tension is too low or too strong, ataxia, tremor, cramps, drowsiness. Complications mainly neuropathy, including mental retardation, acute high blood ammonia coma, or even death.
Diagnosis
The symptoms of patients, first and foremost is the measurement of blood ammonia (NH3) concentrations, useful for diagnosis on biochemical values. Another is a measure of blood amino acid concentration, incidence of the patients, their blood will be obvious melon acid increased to 1000-5000 M (normal 10-20 M). Urinary concentrations of amino acids, organic acid concentration and urinary orotic acid (orotic acid) can also be used as the reference value. Patients with urine orotic acid concentrations rise.
Measurement of skin cells of fibrous tissue Argininosuccinate synthetase, could provide specific biochemical diagnosis.
Prenatal diagnosis
Do amniocentesis (amniocytes) or chorionic villi to do molecular diagnostics.
Treatment
The goal of treatment is to correct the biochemical imbalance and to ensure that nutritional requirements. Under the situation of high ammonia immediately restricted diet of protein, strengthen the non-protein energy sources, to avoid compensatory disorders. Serious, it is possible to quickly remove ammonia hemodialysis.
Low-protein diet
According to patient's age and disease severity of the decision of protein intake, each patient's needs are quite different. Six months ago, because it is fast-growing period, patients may need more protein or 1.5g/kg/day; preschool period, protein intake is usually reduced to 1.2 ~ 1.5g/kg/day; school-age children may be to fell 1 g / kg / day. After puberty, the amount of protein may be less than 0.5g/kg/day.
Drug
Drugs to provide an alternative way to rule out the possibility of waste nitrogen.
1.Sodium benzoate (Ucephan): with glycine (glycine) combine to form hippuric acid (hippurate), and then discharged by the urine. Every one mole of benzoate to remove one mole of nitrogen. Usually give the IV dose is 250 mg / kg / day; oral dose of 375mg/kg/day, minutes 3-4 times taking it and with a low-protein diet. Side effects of nausea, vomiting, tinnitus, visual impairment.
2.Sodium phenylbutyrate (Buphenyl): in the liver to be oxidized to phenylacetate, and then combined with glutamine, the final product phenylacetylglutamine discharged through the urine. 1 mole per 2 mole of phenylbutyrate to remove nitrogen. Given dose is 0.5 mg / kg / day.
3. Arginine (Arginine): by the enzyme arginase (arginase) after role, each 1mole arginine 1mole broken down into urea and ornithine 1mole of (ornithine). High blood ammonia circumstances, given doses of 600 mg / kg / day. Give children with a stable oral dose of 400-700 mg / kg / day.
Prognosis of patients and age and the condition relating to the time of diagnosis. At the neonatal period there are symptoms of the patients, their prognosis is poor, the majority of patients will have some obvious complications. Required long-term cooperation with physicians and nutritionists with the continued out-patient follow-up biochemical tests conducted on a regular basis, recording height and weight development in order to grasp the situation of patients.
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