Identification of a novel mutation in patients with medium-chain acyl- CoA dehydrogenase deficiency

Bing Zhi Yang, Jia Huan Ding, Changcheng Zhou, Mazen M. Dimachkie, Lawrence Sweetman, Majed J. Dasouki, Jeff Wilkinson, Charles R. Roe

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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. (C) 2000 Academic Press.

Original languageEnglish (US)
Pages (from-to)259-262
Number of pages4
JournalMolecular genetics and metabolism
Volume69
Issue number3
DOIs
StatePublished - Mar 2000
Externally publishedYes

Keywords

  • MCAD deficiency
  • Mitochondrial β-oxidation
  • Mutation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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