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

doi:10.1006/mgme.2000.2978

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 journal › Article › peer-review

16 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 language	English (US)
Pages (from-to)	259-262
Number of pages	4
Journal	Molecular genetics and metabolism
Volume	69
Issue number	3
DOIs	https://doi.org/10.1006/mgme.2000.2978
State	Published - Mar 2000
Externally published	Yes

Keywords

MCAD deficiency
Mitochondrial β-oxidation
Mutation

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1006/mgme.2000.2978

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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.",

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AU - Yang, Bing Zhi

AU - Ding, Jia Huan

AU - Zhou, Changcheng

AU - Dimachkie, Mazen M.

AU - Sweetman, Lawrence

AU - Dasouki, Majed J.

AU - Wilkinson, Jeff

AU - Roe, Charles R.

PY - 2000/3

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AB - 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.

KW - MCAD deficiency

KW - Mitochondrial β-oxidation

KW - Mutation

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

Abstract

Keywords

ASJC Scopus subject areas

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