Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria

Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z.

Authors

O N Elpeleg¹, A B Saada, A Shaag, J Z Glustein, W Ruitenbeek, I Tein, J Halevy

Affiliation

¹ Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Isreal.

PMID: 9040667
DOI: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Blotting, Western
DNA / analysis
DNA, Complementary
Dihydrolipoamide Dehydrogenase / deficiency*
Dihydrolipoamide Dehydrogenase / genetics
Fibroblasts / enzymology
Humans
Male
Metabolism, Inborn Errors / complications*
Metabolism, Inborn Errors / enzymology
Mitochondria / enzymology
Myoglobinuria / enzymology
Myoglobinuria / etiology*
Recurrence

Substances

DNA, Complementary
DNA
Dihydrolipoamide Dehydrogenase