Citrullinemia Type II (CIT II)

Gene
SLC25A13
Location
7q21.3
Disease
Citrullinemia Type II (CIT II)
Description
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.
Signs and Symptoms
Type I: Caused by mutations in the ASS1 gene. Type II: Caused by mutations in the SLC25A13 gene and chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma.
Type
Amino Acid Disorders
Category
Secondary

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