Systemic carnitine deficiency: Clinical, biochemical, and morphological cure with L-carnitine

Stefano Di Donato, Dionisio Pelucchetti, Marco Rimoldi, Marina Mora, Barbara Garavaglia, Gaetano Finocchiaro

Research output: Contribution to journalArticlepeer-review


A 20-year-old woman had systemic carnitine deficiency. Biochemical studies of cultured fibroblasts, skeletal muscle mitochondria, and fluids showed no evidence of other disease that might deplete tissue carnitine stores. Carnitine supplementation produced a dramatic improvement in her clinical condition: she gained weight and strength and recovered brain function, which had deteriorated slightly after repeated episodes of encephalopathy. Lipid droplets disappeared from skeletal muscle and plasma, and muscle carnitine content rose from low to normal values. On treatment, she excreted less carnitine than controls. This form of systemic carnitine deficiency may be due to defective carnitine biosynthesis.

Original languageEnglish
Pages (from-to)157-162
Number of pages6
Issue number2
Publication statusPublished - 1984

ASJC Scopus subject areas

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


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