Abstract
We report a 14 year old patient who presented lung emboli and deep vein thrombosis in relationship to protein C deficiency. He had a carnitine-deficient lipid myopathy. Fresh muscle homogenate showed low activities in oxidizing [1-14C]-butyrate, [1-14C]-octonoate and [1-14C]-palmitate. A deficient short chain butyryl-CoA dehydrogenase (SCAD) was found in isolated muscle mitochondria. The patient improved dramatically with daily therapy of 200 mg riboflavin, 2 g carnitine and anticoagulation with coumadin. The treatment was found to restore fatty acid oxidation in fresh muscle homogenate, deficient acylCoA-dehydrogenases in mitochondria and decrease lipid droplets. These results suggest that in this type of lipid myopathy riboflavin supplementation may be effective. The link with protein C deficiency is discussed.
Original language | English |
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Pages (from-to) | 61-65 |
Number of pages | 5 |
Journal | European Journal of Neurology |
Volume | 3 |
Issue number | 1 |
Publication status | Published - 1996 |
Keywords
- acylCoA dehydrogenase
- carnitine
- lipid myopathy
- protein C deficiency
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)