A case of classical maple syrup urine disease "thiamine non-responsive".
D000328:Adult; D000818:Animals; D002262:Carboxy-Lyases / Q000032:analysis; D002675:Child, Preschool; D004035:Diet Therapy; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007532:Isoleucine; D007930:Leucine; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000188:drug therapy; D008892:Milk; D009461:Neurologic Manifestations; D011247:Pregnancy; D013831:Thiamine / Q000009:adverse effects / Q000627:therapeutic use*; D014633:Valine
D007532:Isoleucine; D002262:Carboxy-Lyases; D007930:Leucine; D014633:Valine; D013831:Thiamine