Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

B. Garavaglia, G. Uziel, F. Dworzak, F. Carrara, S. DiDonato

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Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no cardiomyopathy. Uptake of carnitine by cultured fibroblasts was negligible in both patients. V max for carnitine transport was reduced to 50% of controls’ value in the parents and one brother (who had hypertrophic cardiomyopathy) of the first patient. A brother of the second non-cardiopathic patient died at an early age with autopsy findings of a dilated cardiomyopathy and low cardiac carnitine. Autosomal recessive primary carnitine deficiency can express a variable phenotype in different families as well as within the same family. Heterozygotes can manifest heart involvement.

Original languageEnglish
Pages (from-to)1691-1693
Number of pages3
Issue number10
Publication statusPublished - 1991

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)


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