Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002247:Carbon Isotopes; D002262:Carboxy-Lyases / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D046508:Culture Techniques; D004044:Dietary Proteins / Q000009:adverse effects; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000032:analysis; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence; D007532:Isoleucine / Q000097:blood; D007651:Keto Acids / Q000652:urine; D007930:Leucine / Q000097:blood; D007962:Leukocytes / Q000201:enzymology; D008375:Maple Syrup Urine Disease / Q000235:genetics / Q000378:metabolism*; D010088:Oxidoreductases / Q000032:analysis; D014633:Valine / Q000097:blood
D000596:Amino Acids; D002247:Carbon Isotopes; D004044:Dietary Proteins; D007651:Keto Acids; D007532:Isoleucine; D010088:Oxidoreductases; D005696:Galactosidases; D002262:Carboxy-Lyases; D007930:Leucine; D014633:Valine