Introduction
Defective in the development of recessively inherited argininosuccinate on chromosome 9. Under normal conditions, citrulline combines with aspartic acid to form argininosuccinic acid. If the latter does not cleave, citrulline and ammonia accumulate, resulting in incontinence, insomnia, sweating, vomiting, diarrhea, convulsions, mental disorders, and even paroxysmal coma.
Citrullineemia
This disease has an early onset, which can progress to adulthood; it is rare in adulthood. Desire for high arginine foods (beans), it is wise to avoid low arginine foods and sweets. The ass gene may have 10 copies in each human genome, spread over several chromosomes, based on hybridization with DNA probes. These multiple copies may be pseudogenes.
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Citrullineemia type 1
Type 1 citrullinemia, also known as typical citrullinemia, is usually found several days after birth. Affected babies behave normally after birth, but when ammonia levels rise in the body, babies appear to lack strength (drowsiness), loss of appetite, vomiting, epilepsy, and loss of consciousness. These symptoms can even be fatal. Another milder and less common type of citrullineemia occurs during childhood or adulthood. Some people have no dysregulation of citrullinemia type 1 caused by genetic mutation. The citrulline type 1 is the most common disorder, and about one in every five thousand newborn babies in the world will suffer from this disease. The cause of this disease is a mutation in the synthetic aminosuccinic acid gene. The argininosuccinate synthase (EC 6.3.4.5) is responsible for one step in the urea cycle. Mutations in this gene weaken the activity of this enzyme, causing the urea cycle to collapse and the body failing to effectively treat excess nitrogen. Excessive amounts of nitrogen (in the form of ammonia) and other by-products in the urea cycle can accumulate in the blood, causing the above symptoms of citrulline type 1.
Citrullineemia type 2
The symptoms of citrulline type 2 usually appear in adulthood, mainly affecting the nervous system. Features include insanity, abnormal behavior (eg aggressive, allergic and hyperactive),epilepsyAnd coma. These symptoms can also be fatal and caused by certain drugs, infections and alcohol. The citrulline type 2 is mainly found in Japan, and about one in every 100,000 to 230,000 people will be affected. There are also reports of this condition in areas such as East Asia and the Middle East. The mutation of the gene SLC25A1' is the main cause of type 2 citrullinemia. This gene makes a protein called citrin, which is responsible for controlling the entry and exit of certain molecules into and out of the mitochondria. These molecules are important for the urea cycle and involve the production of proteins and nucleotides. Mutations in SLC25A1' generally prevent the production of citrate, which hinders urea cycle and protein and nucleotide production. This can lead to an increase in the levels of ammonia and other toxic substances, causing symptoms of citrulline type 2.
People with a liver disorder in infants, called neonatal intrahepatic cholestasis, may also develop citrullineemia type 2. This disorder prevents the flow of bile in the body and prevents the body from properly absorbing certain nutrients. In many cases, the symptoms will be resolved within one year. However, after some years, some people will also develop symptoms of citrulline type 2. Studies have shown that many infants with neonatal intrahepatic cholestasis, like adults with citrulline type 2, have mutations in the SLC25A1' gene.
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