Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 816-818 |
| Number of pages | 3 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 26 |
| Issue number | 8 |
| DOIs | |
| State | Published - Dec 1 2003 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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. / Hong, Y. S.; Korman, S. H.; Lee, J.; Ghoshal, Pushpankur; Wu, Q.; Barash, V.; Kang, S.; Oh, S.; Kwon, M.; Gutman, A.; Rachmel, A.; Patel, M. S.
In: Journal of Inherited Metabolic Disease, Vol. 26, No. 8, 01.12.2003, p. 816-818.Research output: Contribution to journal › Short survey
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TY - JOUR
T1 - Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency
T2 - Possible beneficial effect of vitamin therapy
AU - Hong, Y. S.
AU - Korman, S. H.
AU - Lee, J.
AU - Ghoshal, Pushpankur
AU - Wu, Q.
AU - Barash, V.
AU - Kang, S.
AU - Oh, S.
AU - Kwon, M.
AU - Gutman, A.
AU - Rachmel, A.
AU - Patel, M. S.
PY - 2003/12/1
Y1 - 2003/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0942266379&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0942266379&partnerID=8YFLogxK
U2 - 10.1023/B:BOLI.0000010004.12053.5b
DO - 10.1023/B:BOLI.0000010004.12053.5b
M3 - Short survey
C2 - 14765544
AN - SCOPUS:0942266379
VL - 26
SP - 816
EP - 818
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 8
ER -