Catalog
Argininaemia
Link to WHO Definition
Argininaemia – http://id.who.int/icd/entity/1619102598
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.