A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.
D000596:Amino Acids / Q000378:metabolism; D002262:Carboxy-Lyases / Q000378:metabolism; D003404:Creatinine / Q000652:urine; D004035:Diet Therapy; D004790:Enzyme Induction; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000097:blood / Q000652:urine; D007651:Keto Acids / Q000097:blood / Q000378:metabolism / Q000652:urine; D007930:Leucine / Q000097:blood / Q000652:urine; D007962:Leukocytes / Q000201:enzymology; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000175:diagnosis / Q000201:enzymology* / Q000628:therapy; D014527:Uric Acid / Q000097:blood / Q000652:urine; D014633:Valine / Q000097:blood / Q000652:urine
D000596:Amino Acids; D007651:Keto Acids; D007532:Isoleucine; D014527:Uric Acid; D003404:Creatinine; D002262:Carboxy-Lyases; D007930:Leucine; D014633:Valine