classic citrullinemia

info · Genetic

A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.

Signs and symptoms

Reduced tissue argininosuccinate synthetase activity
Elevated plasma citrulline
Hyperglutaminemia
Oroticaciduria
Lethargy
Seizure
Ataxia
Cirrhosis
Hepatomegaly
Cerebral edema