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Hereditary protein C deficiency associated with riboflavin‐responsive lipid storage myopathy
Author(s) -
Vergani L.,
Angelini C.,
Pegoraro E.,
Cadaldini M.,
Simioni P.,
Girolami A.,
Turnbull D.M.
Publication year - 1996
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1996.tb00191.x
Subject(s) - carnitine , riboflavin , medicine , myopathy , mitochondrion , biochemistry , butyrate , endocrinology , chemistry , fermentation
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‐ 14 C]‐butyrate, [1‐ 14 C]‐octonoate and [1‐ 14 C]‐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.