Abstract
The authors report a 27-year-old man with B12-responsive mut- methylmalonic aciduria associated with pure muscle symptoms. Two mutations were found in the methylmalonyl-CoA mutase gene. An exercise test showed a reduced maximal workload and reduced oxygen uptake, and a muscle biopsy showed subsarcolemmal accumulation of mitochondria and normal respiratory chain enzyme activities. These findings may be caused by inhibition of mitochondrial energy metabolism by methylmalonate or its metabolites.
| Original language | English |
|---|---|
| Journal | Neurology |
| Volume | 65 |
| Issue number | 6 |
| Pages (from-to) | 931-3 |
| Number of pages | 3 |
| ISSN | 0028-3878 |
| DOIs | |
| Publication status | Published - 27 Sept 2005 |
Keywords
- Adult
- Cell Respiration/genetics
- DNA Mutational Analysis
- Energy Metabolism/genetics
- Exercise Tolerance/genetics
- Humans
- Male
- Metabolism, Inborn Errors/genetics
- Methylmalonic Acid/metabolism
- Methylmalonyl-CoA Mutase/deficiency
- Mitochondria/enzymology
- Mitochondrial Diseases/enzymology
- Mitochondrial Myopathies/enzymology
- Muscle Weakness/enzymology
- Muscle, Skeletal/enzymology
- Mutation/genetics
- Sarcolemma/enzymology
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