Journal of Inherited Metabolic Disease

, Volume 29, Issue 1, pp 203–204

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

  • C. Sansaricq
  • S. Pardo
  • M. Balwani
  • M. Grace
  • K. Raymond
Short Report

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.

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • C. Sansaricq
    • 1
  • S. Pardo
    • 1
  • M. Balwani
    • 1
  • M. Grace
    • 1
  • K. Raymond
    • 1
  1. 1.Department of Human GeneticsMount Sinai School of MedicineNew YorkUSA

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