Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

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

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

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
JournalNeurology
Volume41
Issue number10
Publication statusPublished - 1991

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Carnitine
Heterozygote
Muscular Diseases
Cardiomyopathies
Siblings
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Hypoglycemia
Autopsy
Fibroblasts
Parents
Phenotype
Systemic carnitine deficiency
Brothers

ASJC Scopus subject areas

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

Cite this

Garavaglia, B., Uziel, G., Dworzak, F., Carrara, F., & DiDonato, S. (1991). Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation. Neurology, 41(10), 1691-1693.

Primary carnitine deficiency : Heterozygote and intrafamilial phenotypic variation. / Garavaglia, B.; Uziel, G.; Dworzak, F.; Carrara, F.; DiDonato, S.

In: Neurology, Vol. 41, No. 10, 1991, p. 1691-1693.

Research output: Contribution to journalArticle

Garavaglia, B, Uziel, G, Dworzak, F, Carrara, F & DiDonato, S 1991, 'Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation', Neurology, vol. 41, no. 10, pp. 1691-1693.
Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S. Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation. Neurology. 1991;41(10):1691-1693.
Garavaglia, B. ; Uziel, G. ; Dworzak, F. ; Carrara, F. ; DiDonato, S. / Primary carnitine deficiency : Heterozygote and intrafamilial phenotypic variation. In: Neurology. 1991 ; Vol. 41, No. 10. pp. 1691-1693.
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