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

Y. S. Hong, S. H. Korman, J. Lee, Pushpankur Ghoshal, Q. Wu, V. Barash, S. Kang, S. Oh, M. Kwon, A. Gutman, A. Rachmel, M. S. Patel

Research output: Contribution to journalShort survey

22 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)816-818
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume26
Issue number8
DOIs
StatePublished - Dec 1 2003
Externally publishedYes

Fingerprint

Vitamins
Mutation
Ubiquinone
Riboflavin
Carnitine
Therapeutics
Biotin
Siblings
Genotype
Phenotype
Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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. / Hong, Y. S.; Korman, S. H.; Lee, J.; Ghoshal, Pushpankur; Wu, Q.; Barash, V.; Kang, S.; Oh, S.; Kwon, M.; Gutman, A.; Rachmel, A.; Patel, M. S.

In: Journal of Inherited Metabolic Disease, Vol. 26, No. 8, 01.12.2003, p. 816-818.

Research output: Contribution to journalShort survey

Hong, Y. S. ; Korman, S. H. ; Lee, J. ; Ghoshal, Pushpankur ; Wu, Q. ; Barash, V. ; Kang, S. ; Oh, S. ; Kwon, M. ; Gutman, A. ; Rachmel, A. ; Patel, M. S. / 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. In: Journal of Inherited Metabolic Disease. 2003 ; Vol. 26, No. 8. pp. 816-818.
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AU - Korman, S. H.

AU - Lee, J.

AU - Ghoshal, Pushpankur

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AU - Barash, V.

AU - Kang, S.

AU - Oh, S.

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AU - Gutman, A.

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AU - Patel, M. S.

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