Neonatal screening to confirm diagnosis of treatment instructions

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.