Citrullinemia type II
Citrullinemia type II
Citrullinemia type II (pronounced sit-roo-lin-ee-mee-uh type two), also known as Citrin Deficiency or Adult-onset Type II Citrullinemia, is a rare genetic disorder that affects the urea cycle, a series of biochemical processes in the body. The disorder is characterized by an accumulation of ammonia and other toxic substances in the blood.
Etymology
The term "Citrullinemia" is derived from the word "citrulline", a compound that accumulates in the blood of people with this condition. The "type II" designation indicates that this is the second form of the disorder to be described in the medical literature.
Symptoms
Symptoms of Citrullinemia type II can vary widely, ranging from mild to severe. They may include fatigue, confusion, memory loss, seizures, and in severe cases, coma or death.
Causes
Citrullinemia type II is caused by mutations in the SLC25A13 gene. This gene provides instructions for making a protein called citrin, which plays a crucial role in the urea cycle. Mutations in the SLC25A13 gene disrupt the function of citrin, leading to the symptoms of Citrullinemia type II.
Diagnosis
Diagnosis of Citrullinemia type II typically involves a combination of blood tests, urine tests, and genetic testing. These tests can identify the characteristic biochemical abnormalities associated with the disorder, as well as the specific genetic mutations that cause it.
Treatment
Treatment for Citrullinemia type II typically involves a combination of dietary management, medications, and in some cases, liver transplantation. The goal of treatment is to reduce the levels of ammonia and other toxic substances in the blood.
See also
External links
- Medical encyclopedia article on Citrullinemia type II
- Wikipedia's article - Citrullinemia type II
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