A patient with a deficiency of serum-carnosinase activity.
D001803:Blood Transfusion; D002675:Child, Preschool; D003241:Consanguinity; D003677:Deficiency Diseases / Q000150:complications* / Q000235:genetics / Q000628:therapy; D004150:Dipeptidases / Q000097:blood*; D004151:Dipeptides / Q000097:blood / Q000652:urine*; D004569:Electroencephalography; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D012640:Seizures / Q000150:complications*
D004151:Dipeptides; D004150:Dipeptidases