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Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

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Journal of Inherited Metabolic Disease

Summary

A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

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References

  • Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, DeVivo DC, Amir N (1995) Congenital lactic acidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. J Pediatr 126: 72–74.

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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 Human Genetics, Mount Sinai School of Medicine, New York, NY, 10029, USA

    C. Sansaricq, S. Pardo, M. Balwani, M. Grace & K. Raymond

Authors
  1. C. Sansaricq
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  2. S. Pardo
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  3. M. Balwani
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  4. M. Grace
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  5. K. Raymond
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Corresponding author

Correspondence to C. Sansaricq.

Additional information

Communicating editor: Garry Brown

Competing interests: None declared

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Sansaricq, C., Pardo, S., Balwani, M. et al. Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. J Inherit Metab Dis 29, 203–204 (2006). https://doi.org/10.1007/s10545-006-0175-5

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  • DOI: https://doi.org/10.1007/s10545-006-0175-5

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