Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.
D002208:Caproates; D002247:Carbon Isotopes; D002262:Carboxy-Lyases / Q000097:blood*; D002478:Cells, Cultured; D004796:Clinical Enzyme Tests; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology*; D008375:Maple Syrup Urine Disease / Q000175:diagnosis*; D008722:Methods; D008832:Microchemistry; D012867:Skin / Q000201:enzymology*; D013997:Time Factors; D014631:Valerates
D002208:Caproates; D002247:Carbon Isotopes; D014631:Valerates; D002262:Carboxy-Lyases