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

doi:10.1023/B:BOLI.0000010004.12053.5b

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 journal › Short survey › peer-review

33 Scopus citations

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 language	English (US)
Pages (from-to)	816-818
Number of pages	3
Journal	Journal of Inherited Metabolic Disease
Volume	26
Issue number	8
DOIs	https://doi.org/10.1023/B:BOLI.0000010004.12053.5b
State	Published - 2003
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1023/B:BOLI.0000010004.12053.5b

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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. (2003). 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. Journal of Inherited Metabolic Disease, 26(8), 816-818. https://doi.org/10.1023/B:BOLI.0000010004.12053.5b

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. et al.
In: Journal of Inherited Metabolic Disease, Vol. 26, No. 8, 2003, p. 816-818.

Research output: Contribution to journal › Short survey › peer-review

Hong, YS, Korman, SH, Lee, J, Ghoshal, P, Wu, Q, Barash, V, Kang, S, Oh, S, Kwon, M, Gutman, A, Rachmel, A & Patel, MS 2003, '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', Journal of Inherited Metabolic Disease, vol. 26, no. 8, pp. 816-818. https://doi.org/10.1023/B:BOLI.0000010004.12053.5b

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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.",

author = "Hong, {Y. S.} and Korman, {S. H.} and J. Lee and Pushpankur Ghoshal and Q. Wu and V. Barash and S. Kang and S. Oh and M. Kwon and A. Gutman and A. Rachmel and Patel, {M. S.}",

note = "Funding Information: This work was supported in part by UBPHS grant DK42885 (to M.S.P.).",

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doi = "10.1023/B:BOLI.0000010004.12053.5b",

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T2 - Possible beneficial effect of vitamin therapy

AU - Hong, Y. S.

AU - Korman, S. H.

AU - Lee, J.

AU - Ghoshal, Pushpankur

AU - Wu, Q.

AU - Barash, V.

AU - Kang, S.

AU - Oh, S.

AU - Kwon, M.

AU - Gutman, A.

AU - Rachmel, A.

AU - Patel, M. S.

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AB - 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.

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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

Abstract

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