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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

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Journal of Inherited Metabolic Disease

Abstract

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.

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REFERENCES

  • Hong YS, Kerr DS, Craigen WJ, et al (1996) Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Mol Genet 5: 1925 1930.

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  • Shaag A, Saada A, Berger I, et al (1999) Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82: 177 182.

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Authors and Affiliations

  1. Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, 14214, USA

    Y. S. Hong, P. Ghoshal, Q. Wu & M. S. Patel

  2. Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel

    S. H. Korman, V. Barash & A. Gutman

  3. Department of Genetic Engineering, Sungkyunkwan University, Suwon, Republic of Korea

    J. Lee, S. Kang, S. Oh & M. Kwon

  4. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

    A. Rachmel

Authors
  1. Y. S. Hong
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  2. S. H. Korman
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  3. J. Lee
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  4. P. Ghoshal
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  5. Q. Wu
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  6. V. Barash
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  7. S. Kang
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  8. S. Oh
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  9. M. Kwon
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  10. A. Gutman
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  11. A. Rachmel
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  12. M. S. Patel
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Hong, Y.S., Korman, S.H., Lee, J. et al. 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. J Inherit Metab Dis 26, 816–818 (2003). https://doi.org/10.1023/B:BOLI.0000010004.12053.5b

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  • DOI: https://doi.org/10.1023/B:BOLI.0000010004.12053.5b

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