Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence
✍ Scribed by Orly N. Elpeleg; Avraham Shaag; Joseph Z. Glustein; Yair Anikster; Adina Joseph; Ann Saada
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 71 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Lipoamide dehydrogenase (LAD) is the third catalytic subunit of the pyruvate dehydrogenase complex, which converts pyruvate to acetyl-CoA. A small number of patients with LAD deficiency have been reported (Robinson, 1995). All patients presented during the first weeks of life with lactic acidemia, developed progressive neurological deterioration, and most died during early childhood. Molecular studies revealed two disease-causing mutations, K72E and P488L, in one patient (Liu et al., 1993). We report a new LAD mutation in two unrelated patients of Ashkenazi-Jewish origin.