Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy
- 1 December 2003
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 26 (8) , 816-818
- https://doi.org/10.1023/b:boli.0000010004.12053.5b
Abstract
Summary: Dihydrolipoamide dehydrogenase (E3) deficiency with a clinical phenotype and genotype (Gly194Cys homozygous), previously identified only in Ashkenazi Jewish patients, was diagnosed in two Palestinian Arab siblings and two unrelated Ashkenazi Jewish patients. While three of the four patients died in childhood without specific treatment, the surviving patient at age 18 years may have benefited from long‐term daily supplementation with a cocktail of riboflavin, biotin, coenzyme Q and carnitine.Keywords
This publication has 2 references indexed in Scilit:
- Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi JewsAmerican Journal of Medical Genetics, 1999
- Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiencyHuman Molecular Genetics, 1996