ICD·index Chapters ENESDE
5C50.A2 category

Argininaemia

Definition

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised 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.

Also indexed as

Arginase deficiencyArgininaemiaArginine hyperaminoaciduriaHyperargininaemiametabolic disorder of arginine

Nearby in Disorders of urea cycle metabolism