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  • Title: Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Author: Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Journal: Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538.
    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.
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