Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.
D000138:Acidosis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003128:Coma / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007930:Leucine / Q000378:metabolism*; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency; D010421:Pentanoic Acids / Q000097:blood* / Q000652:urine
D010421:Pentanoic Acids; D010088:Oxidoreductases; D007930:Leucine