title: Common MCAD mutation in a healthy parent of two affected siblings.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
authors.forename: L E
authors.initials: LE
authors.lastname: Heptinstall
authors.forename: J
authors.initials: J
authors.lastname: Till
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D000328:Adult; D004247:DNA / Q000032:analysis; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D004247:DNA; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase