title: Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
abstract: In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acids followed by peak confirmation by electron impact mass spectrometry revealed a high suberate/adipate ratio (greater than 1.0) and the presence of n-hexanoylglycine (HG). Acylcarnitine analysis by fast atom bombardment mass spectrometry (FAB-MS) was inconclusive, but FAB-MS/MS (tandem mass spectrometry) revealed diagnostic amounts of octanoylcarnitine and hexanoylcarnitine. Quantitative analysis of acylglycines by stable isotope dilution and chemical ionization mass spectrometry revealed a 30-fold increase in HG and increased suberylglycine, but no increase in 3-phenylpropionylglycine.
authors: Department of Chemical Pathology, Sheffield Children's Hospital, UK.
authors: M J
authors: MJ
authors: Bennett
authors: P M
authors: PM
authors: Coates
authors: D E
authors: DE
authors: Hale
authors: D S
authors: DS
authors: Millington
authors: R J
authors: RJ
authors: Pollitt
authors: P
authors: P
authors: Rinaldo
authors: C R
authors: CR
authors: Roe
authors: K
authors: K
authors: Tanaka
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002331:Carnitine / Q000652:urine; D002675:Child, Preschool; D003404:Creatinine / Q000652:urine; D003998:Dicarboxylic Acids / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry; D005819:Genetic Markers; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014297:Trimethylsilyl Compounds / Q000032:analysis
chemical_list: D003998:Dicarboxylic Acids; D005819:Genetic Markers; D014297:Trimethylsilyl Compounds; C057466:3-phenylpropionylglycine; C013264:suberylglycine; D003404:Creatinine; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine; D005998:Glycine