Muscle carnitine deficiency and fatal cardiomyopathy

Zwi H. Hart, Chung Ho Chang, Salvatore Di Mauro, Q. Farooki, Ram Ayyar

Research output: Contribution to journalArticle

60 Scopus citations

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 I 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.

Original languageEnglish (US)
Pages (from-to)147-151
Number of pages5
JournalNeurology
Volume28
Issue number2
DOIs
StatePublished - Feb 1978

ASJC Scopus subject areas

  • Clinical Neurology

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    Hart, Z. H., Chang, C. H., Di Mauro, S., Farooki, Q., & Ayyar, R. (1978). Muscle carnitine deficiency and fatal cardiomyopathy. Neurology, 28(2), 147-151. https://doi.org/10.1212/wnl.28.2.147