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1032 Hyperdibasic aminoaciduria type 1

definition

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. To date, 25 heterozygotes and one homozygote have been reported.