What Is Citrullinemia?

Defective arginine succinase synthesis on recessive chromosome 9. Under normal circumstances, citrulline and aspartic acid combine to form arginine succinic acid. If the latter cannot be broken, citrulline and ammonia accumulate, and as a result, incontinence, insomnia, sweating, vomiting, diarrhea, convulsions, mental disorders, and even paroxysmal coma will occur.

Basic Information

Western Medicine Name

Citrullineemia

English name

citrullinemia

Affiliated Department

Internal Medicine-Hematology

Disease site

chromosome

The main symptoms

Incontinence, insomnia, vomiting, sweating

Main cause

Recessive arginine succinase synthesis defect on chromosome 9

Contagious

Non-contagious

Introduction to Citrullinemia

citrullinemia

Citrullineemia

The disease starts early and can progress to adulthood; it is rare in adulthood. It is wise to crave high arginine foods (beans) and avoid low arginine foods and sweets. There may be 10 copies of the ass gene in each human genome, which are spread across several chromosomes, which is known from the hybridization performed with DNA probes. These multiple copies may be pseudogenes.

Citrullinemia

1 Citrulline type 1

Citrullinemia type 1, also known as typical citrullineemia, is usually found a few days after birth. Affected babies behave normally after birth, but when ammonia levels continue to rise in the body, the babies appear to lack strength (sleepiness), loss of appetite, vomiting, epilepsy, and loss of consciousness. These symptoms can even be fatal. Another milder and rare type of citrullineemia type 1 occurs in children or adults. In some people, citrullineemia type 1 caused by a genetic mutation is completely free of any symptoms of imbalance. Citrullinemia type 1 is the most common disorder, affecting about 1 in 57,000 newborn babies worldwide. The cause of this disease is a mutation in the arginine succinic acid synthesis gene. Arginine succinate synthase (EC6.3.4.5) is responsible for a step in the urea cycle. Mutations in this gene reduce the activity of this enzyme, which disrupts the urea cycle and the body fails to effectively process excess nitrogen. Excessive nitrogen (in the form of ammonia) and other by-products in the urea cycle can accumulate in the blood, causing the symptoms of citrullineemia type 1 above.

2 Citrulline type 2

The symptoms of citrullineemia type 2 usually appear in adulthood, mainly affecting the nervous system. Features include insanity, abnormal behaviors (such as aggressiveness, allergies, and hyperactivity), epilepsy, and coma. These symptoms can also be fatal and can be caused by certain drugs, infections, and drinking. Citrullinemia type 2 is mainly found in Japan, and it affects about one in every 100,000 to 230,000 people. It has also been reported in East Asia and the Middle East. The mutation of the gene SLC25A1 'is the main cause of citrullinemia type 2. This gene makes a protein called citrin, which is primarily responsible for controlling certain molecules in and out of the mitochondria. These molecules are important for the urea cycle and also involve the production of proteins and nucleotides. The mutation of SLC25A1 'generally prevents the production of citrin, thereby hindering the urea cycle and the production of proteins and nucleotides. This can cause levels of ammonia and other toxic substances to rise, triggering symptoms of citrullineemia type 2.

People with a liver disorder in their 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 absorbing certain nutrients normally. In many cases, symptoms will be resolved within a year. However, after some years, some people will also develop symptoms of citrullineemia type 2. Studies have shown that many infants with neonatal intrahepatic cholestasis, like adults with citrullineemia type 2, have mutations in the SLC25A1 'gene.