Citrullinemia (CIT) Type I

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood.

Signs and Symptoms
Type I (classic citrullinemia): usually becomes evident in the first few days of life. Symptoms include lack of energy, poor feeding, vomiting, seizures, and loss of consciousness later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, problems with balance and muscle coordination (ataxia), and lethargy. Type II is caused by mutations in the SLC25A13 gene.


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