[Congenital hyperlysin-arginin-ornithinuria in a mentally retarded child (author's transl)].
Congenital hyperdibasicaminoaciduria without cystinuria was detected in a mentally but not physically retarded boy. Plasma lysine and arginine were normal, whereas plasma ornithine was decreased. Although oral or intravenous loading tests could not be performed, the history without vomiting or diarrhea, and the normal physical development indicated an unimpaired intestinal transport of basic aminoacids. Our case could be a further mutant of this transport defect which concerns the renal tubuli only.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001120:Arginine / Q000378:metabolism*; D001693:Biological Transport, Active; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D007668:Kidney / Q000378:metabolism; D008239:Lysine / Q000378:metabolism*; D008297:Male; D009952:Ornithine / Q000378:metabolism*
D001120:Arginine; D009952:Ornithine; D008239:Lysine
Kongenitale, isolierte Hyperlysin-Arginin-Ornithinurie bei einem cerebral retardierten Kind.