Hyperdibasic aminoaciduria type 1
Hyperdibasic aminoaciduria type 1
Definition
Hyperdibasic aminoaciduria, type 1 is characterized 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. To date, 25 heterozygotes and one homozygote have been reported.
Also known as dibasic amino aciduria type 1 — per MONDO