Muscle carnitine deficiency and fatal cardiomyopathy
- 1 February 1978
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 28 (2) , 147
- https://doi.org/10.1212/wnl.28.2.147
Abstract
A 23-month-old boy with progressive muscle weakness and severe cardiomyopathy was found to have oil red O positive vacuoles predominantly in type 1 muscle fibers. Serum carnitine was normal, but muscle carnitine content was decreased. Both parents were clinically normal, but the muscle carnitine level was low in the father. Despite oral treatment with carnitine, the condition progressed and was fatal. At autopsy, cardiac muscle showed borderline low carnitine content and numerous mitochondria, but no lipid accumulation.This publication has 1 reference indexed in Scilit:
- Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidneyJournal of the Neurological Sciences, 1976