Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Comprehensive, easy-to-understand information about this condition
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argininosuccinic aciduria
MONDO:0008815
citrullinemia type I
MONDO:0008988
carbamoyl phosphate synthetase I deficiency disease
MONDO:0009376
hyperammonemia due to N-acetylglutamate synthase deficiency
MONDO:0009377
ornithine translocase deficiency
MONDO:0009393
ornithine carbamoyltransferase deficiency
MONDO:0010703