Citrullinemia Type II (CIT II)



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.

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