hyperdibasic aminoaciduria type 1
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.
MONDO:0019216
inborn disorder of amino acid transport
is_a
dibasic amino aciduria type 1
exact
dibasic aminoaciduria 1
related