PMID: 9540846Apr 16, 1998Paper

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing

Biochimica Et Biophysica Acta
Y S HongM S Patel

Abstract

A male child with metabolic acidosis was diagnosed as having dihydrolipoamide dehydrogenase (E3) deficiency. E3 activity of the proband's cultured fibroblasts and blood lymphocytes was 3-9% of normal, while in the parent's lymphocytes it was about 60% of normal. The proband's pyruvate dehydrogenase complex (PDC) and the alpha-ketoglutarate dehydrogenase complex activities from cultured skin fibroblasts were 12% and 6% of normal, respectively. PDC activity in the parents cultured fibroblasts was 25-31% of normal. Western and Northern blot analyses showed similar quantities of E3 protein and mRNA in cultured fibroblasts from the proband and his parents. DNA sequencing of cloned full-length E3 cDNAs, from the proband and the parents, showed two mutations on different alleles of proband were inherited from the parents. One mutation is a three nucleotide (AGG) deletion, from the mother, resulting in deletion of Gly101 in the FAD binding domain. The other mutation is a nucleotide substitution (G to A), from the father, leading to substitution of Lys for Glu340 in the central domain. The same deletion mutation was found in E3 cDNA from a chorionic villus sample and cultured fibroblasts obtained from the mother's subsequent offspring. ...Continue Reading

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Citations

Oct 26, 2007·Journal of Biomedical Science·Yi-Chun WangTed-Chung Liu
Feb 17, 2000·Neurochemistry International·G E GibsonN Y Calingasan
Sep 25, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Abraham M BrownJohn P Blass
Jun 14, 2006·American Journal of Medical Genetics. Part a·Jessie M CameronBrian H Robinson
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Mar 10, 2000·Biochemical and Biophysical Research Communications·A SaadaO N Elpeleg
Jun 20, 2006·Free Radical Biology & Medicine·Nadezhda I FedotchevaMariya N Kondrashova
Feb 18, 2010·Journal of Molecular Catalysis. B, Enzymatic·Mulchand S PatelSukhdeep Sidhu

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