Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

S. DiDonato, F. Cornelio, L. Pacini, D. Peluchetti, M. Rimoldi, S. Spreafico

Research output: Contribution to journalArticlepeer-review

Abstract

A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.

Original languageEnglish
Pages (from-to)465-467
Number of pages3
JournalAnnals of Neurology
Volume4
Issue number5
Publication statusPublished - 1978

ASJC Scopus subject areas

  • Neuroscience(all)

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