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.