Lipoamide dehydrogenase activity in lymphocytes

Itai Berger, Orly N. Elpeleg, Ann Saada

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


To assess the suitability of lymphocytes for patient diagnosis and carrier detection of lipoamide dehydrogenase deficiency, the activity of lipoamide dehydrogenase was determined in lymphocytes of six patients, seven obligate heterozygotes and 32 healthy controls. In healthy controls, lipoamide dehydrogenase activity was 80.7 ± 23.6 nmol/min/mg protein, in obligate heterozygotes it was 36.0 ± 12.1 nmol/min/mg protein and in the patients it was 13.3 ± 5.1 nmol/min/mg protein. For the purpose of standardization, the results were also calculated as lipoamide dehydrogenase/citrate synthase activity ratio. The activity of lipoamide dehydrogenase and the lipoamide dehydrogenase/citrate synthase ratio differed significantly between the three groups (P < 0.005). We conclude that lymphocytes are suitable for the diagnosis of lipoamide dehydrogenase deficiency and for carrier detection.

Original languageEnglish
Pages (from-to)197-201
Number of pages5
JournalClinica Chimica Acta
Issue number2
StatePublished - 30 Dec 1996
Externally publishedYes


  • Carrier detection
  • Lipoamide dehydrogenase
  • Lymphocytes

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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