Riboflavin-responsive lipid myopathy and carnitine deficiency.

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.

journal_name

Neurology

journal_title

Neurology

authors

Carroll JE,Shumate JB,Brooke MH,Hagberg JM

doi

10.1212/wnl.31.12.1557

subject

Has Abstract

pub_date

1981-12-01 00:00:00

pages

1557-9

issue

12

eissn

0028-3878

issn

1526-632X

journal_volume

31

pub_type

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