title: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
abstract: A novel mutation was identified in two unrelated patients with medium-chain acyl-CoA dehydrogenase deficiency. First, a 19-year-old Caucasian female presented with a devastating illness, resulting in sudden death in adulthood which is unusual. The second patient, now a 3.5-year-old male, presented at 17 months of age with a hypoglycemic seizure and dehydration. Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G.
authors.affiliation: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA.
authors.forename: B Z
authors.initials: BZ
authors.lastname: Yang
authors.forename: J H
authors.initials: JH
authors.lastname: Ding
authors.forename: C
authors.initials: C
authors.lastname: Zhou
authors.forename: M M
authors.initials: MM
authors.lastname: Dimachkie
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
authors.forename: M J
authors.initials: MJ
authors.lastname: Dasouki
authors.forename: J
authors.initials: J
authors.lastname: Wilkinson
authors.forename: C R
authors.initials: CR
authors.lastname: Roe
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D008297:Male; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012640:Seizures / Q000209:etiology
chemical_list: D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase