Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect.
D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids / Q000097:blood / Q000134:cerebrospinal fluid; D002675:Child, Preschool; D002854:Chromatography, Paper; D004151:Dipeptides / Q000008:administration & dosage / Q000097:blood* / Q000134:cerebrospinal fluid / Q000652:urine; D006801:Humans; D007093:Imidazoles / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009207:Myoclonus / Q000150:complications*
D000596:Amino Acids; D004151:Dipeptides; D007093:Imidazoles