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.
|Number of pages||3|
|Publication status||Published - 1991|
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology