Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
case_report · Level V
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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.
Medical subject headings
- Energy Metabolism
- Metabolism, Inborn Errors
- Methylmalonyl-CoA Mutase
- Mitochondrial Myopathies
- Muscle, Skeletal