Identification of a novel mutation in patients wit...[Mol Genet Metab. 2000]

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1: Mol Genet Metab. 2000 Mar;69(3):259-62. Links

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

Yang BZ, Ding JH, Zhou C, Dimachkie MM, Sweetman L, Dasouki MJ, Wilkinson J, Roe CR.

Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA.

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. Copyright 2000 Academic Press.

PMID: 10767181 [PubMed - indexed for MEDLINE]

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
J Clin Invest. 1994 Oct; 94(4):1477-83.

[J Clin Invest. 1994]
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
Am J Hum Genet. 1993 Sep; 53(3):730-9.

[Am J Hum Genet. 1993]
ReviewMutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
Hum Mutat. 1992; 1(4):271-9.

[Hum Mutat. 1992]
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
Am J Hum Genet. 1993 Jun; 52(6):1111-21.

[Am J Hum Genet. 1993]
ReviewMedium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.
Eur J Pediatr. 1992 Mar; 151(3):154-9.

[Eur J Pediatr. 1992]
» See reviews... | » See all...

Cited by 2 PubMed Central articles

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC. Hum Mol Genet. 2009 May 1; 18(9):1612-23. Epub 2009 Feb 18.

[Hum Mol Genet. 2009]
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, et al. Am J Hum Genet. 2001 Jun; 68(6):1408-18. Epub 2001 May 8.

[Am J Hum Genet. 2001]

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