AI Article Synopsis
- The study evaluated the activity of lipoamide dehydrogenase in lymphocytes from patients, obligate heterozygotes, and healthy controls to determine their effectiveness for diagnosing lipoamide dehydrogenase deficiency.
- Healthy controls showed significantly higher lipoamide dehydrogenase activity (80.7 nmol/min/mg) compared to obligate heterozygotes (36.0 nmol/min/mg) and patients (13.3 nmol/min/mg).
- The differences in enzyme activity among the groups were statistically significant, supporting the conclusion that lymphocytes can be effectively used for diagnosis and carrier detection of this deficiency.
Article Abstract
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.
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| http://dx.doi.org/10.1016/s0009-8981(96)06420-0 | DOI Listing |
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