Argininaemia (Q40017)

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.

Language	Label	Description	Also known as
default for all languages	5C50.A2
English	Argininaemia	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.