Abstract |
Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
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Authors | M Rodriguez-Budelli, P Kark |
Journal | Neurology
(Neurology)
Vol. 28
Issue 12
Pg. 1283-6
(Dec 1978)
ISSN: 0028-3878 [Print] United States |
PMID | 569787
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Pyruvate Dehydrogenase Complex
- Ketoglutarate Dehydrogenase Complex
- Dihydrolipoamide Dehydrogenase
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Topics |
- Adolescent
- Chemical Phenomena
- Chemistry
- Dihydrolipoamide Dehydrogenase
(genetics, metabolism)
- Female
- Friedreich Ataxia
(enzymology)
- Humans
- Ketoglutarate Dehydrogenase Complex
(genetics, metabolism)
- Kinetics
- Male
- Pyruvate Dehydrogenase Complex
(genetics, metabolism)
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