Hereditary protein C deficiency associated with riboflavin-responsive lipid storage myopathy

L. Vergani, C. Angelini, E. Pegoraro, M. Cadaldini, P. Simioni, A. Girolami, D. M. Turnbull

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)61-65
Number of pages5
JournalEuropean Journal of Neurology
Volume3
Issue number1
Publication statusPublished - 1996

Keywords

  • acylCoA dehydrogenase
  • carnitine
  • lipid myopathy
  • protein C deficiency

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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