Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Dihydrolipoamide dehydrogenase (E3) deficiency with a clinical phenotype and genotype (Gly194Cys homozygous), previously identified only in Ashkenazi Jewish patients, was diagnosed in two Palestinian Arab siblings and two unrelated Ashkenazi Jewish patients. While three of the four patients died in...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2003-01, Vol.26 (8), p.816-818
Main Authors: Hong, Y. S., Korman, S. H., Lee, J., Ghoshal, P., Wu, Q., Barash, V., Kang, S., Oh, S., Kwon, M., Gutman, A., Rachmel, A., Patel, M. S.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Child, Preschool
Dihydrolipoamide Dehydrogenase - genetics
Feeding. Feeding behavior
Female
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Humans
Islam
Jews - genetics
Male
Molecular and cellular biology
Mutation
Vertebrates: anatomy and physiology, studies on body, several organs or systems
Vitamins - therapeutic use
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Summary:Dihydrolipoamide dehydrogenase (E3) deficiency with a clinical phenotype and genotype (Gly194Cys homozygous), previously identified only in Ashkenazi Jewish patients, was diagnosed in two Palestinian Arab siblings and two unrelated Ashkenazi Jewish patients. While three of the four patients died in childhood without specific treatment, the surviving patient at age 18 years may have benefited from long‐term daily supplementation with a cocktail of riboflavin, biotin, coenzyme Q and carnitine.
ISSN:0141-8955
1573-2665
DOI:10.1023/B:BOLI.0000010004.12053.5b