Catalog

Hyperdibasic aminoaciduria type 1

No MMS code

Link to WHO Definition

Hyperdibasic aminoaciduria type 1 – http://id.who.int/icd/entity/1522058907

Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit.