title: A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
abstract: A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.
authors.affiliation: Oliver Latham Laboratory, New South Wales Department of Health, Sydney, Australia.
authors.forename: K C
authors.initials: KC
authors.lastname: Leung
authors.forename: J W
authors.initials: JW
authors.lastname: Hammond
authors.forename: S
authors.initials: S
authors.lastname: Chabra
authors.forename: K H
authors.initials: KH
authors.lastname: Carpenter
authors.forename: M
authors.initials: M
authors.lastname: Potter
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D004247:DNA / Q000235:genetics*; D044943:Fatty Acid Desaturases / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D005227:Fatty Acids / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D016339:Spectrometry, Mass, Fast Atom Bombardment
chemical_list: D005227:Fatty Acids; D004247:DNA; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase