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.
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.
Hong
Y S
YS
Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14214, USA.
Korman
S H
SH
Lee
J
J
Ghoshal
P
P
Wu
Q
Q
Barash
V
V
Kang
S
S
Oh
S
S
Kwon
M
M
Gutman
A
A
Rachmel
A
A
Patel
M S
MS
D002648:Child; D002675:Child, Preschool; D008058:Dihydrolipoamide Dehydrogenase / Q000235:genetics*; D005260:Female; D006801:Humans; D007514:Islam; D007585:Jews / Q000235:genetics*; D008297:Male; D009154:Mutation; D014815:Vitamins / Q000627:therapeutic use*
D014815:Vitamins; D008058:Dihydrolipoamide Dehydrogenase