Biochemical and morphological studies on a case of systemic carnitine deficiency.

C. Cerri, G. Meola, G. Scarlato

Research output: Contribution to journalArticlepeer-review


The authors report a patient with systemic carnitine deficiency in which, despite restoration of normal serum carnitine level by therapy, the fatal course of the disease progressed. Postmortem studies of cardiac muscle with Oil red O failed to show lipid accumulation which was still present in muscle and liver. Carnitine level in liver was less than 10% of the controls values; total carnitine in muscle was 50% of the controls with differences in its esterification pattern; whereas the free carnitine was 1/10 of normal, the long chain esterified one was 3 times higher than the control. Heart carnitine content was normal. The authors suggest that although no therapeutic effects were detected in skeletal muscle, the normal carnitine content and the absence of lipidosis in the heart suggest that carnitine therapy may have been beneficial in our patient enabling the heart to utilize fatty acids.

Original languageEnglish
Pages (from-to)219-220
Number of pages2
JournalActa neuropathologica. Supplementum
Publication statusPublished - 1981

ASJC Scopus subject areas

  • Medicine(all)


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