Arginase deficiency

ICD-10 Code E72.21

Arginase deficiency

Definition

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.

Also known as arginase deficiency, argininemia, hyperargininemia — per MONDO

Also identified as

Drugs indicated

Drug Relation Source
Pegzilarginase may treat MEDRT · Public domain (U.S. Government work)