Riboflavin-responsive lipid myopathy and carnitine deficiency

James E. Carroll, Jack B. Shumate, Michael H. Brooke, James M. Hagberg

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

We used riboflavin to treat a patient with lipid myopathy, reduced exercise capacity, intolerance to fasting, and reduced concentrations of carnitine in muscle and serum. Although carnitine concentrations did not change, exercise capacity doubled, and response to fasting improved. Muscle enzyme assay showed that palmityl CoA dehydrogenase activity with and without added flavin adenine dinucleotide (a riboflavin product) was normal. Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect.

Original languageEnglish (US)
Pages (from-to)1557-1559
Number of pages3
JournalNeurology
Volume31
Issue number12
DOIs
StatePublished - Dec 1981
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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