5C50.A2 Argininaemia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
synonyms
- Argininaemia
- Hyperargininaemia
- Arginase deficiency
- metabolic disorder of arginine
- Arginine hyperaminoaciduria
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