PMID: 6538002Feb 1, 1984Paper

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

Neurology
S Di DonatoG Finocchiaro

Abstract

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.

Citations

Jan 1, 1987·Journal of Inherited Metabolic Disease·C Vianey-LiaudM Mathieu
Aug 1, 1987·Italian Journal of Neurological Sciences·F DworzakF Cornelio
Dec 15, 2007·Journal of General Internal Medicine·Berkeley N Limketkai, Stephen D Zucker
Jan 1, 1985·Clinical Neurology and Neurosurgery·J J MartinC Ceuterick
Feb 1, 1988·The Journal of Clinical Investigation·W A GahlJ Bernar
Jul 1, 1989·Medical Toxicology and Adverse Drug Experience·J OsterlohD Combest
Jan 1, 1985·Virchows Archiv. B, Cell Pathology Including Molecular Pathology·J Müller-HöckerG Hübner
Dec 14, 2004·Annals of the New York Academy of Sciences·Eric P Brass
Nov 3, 2004·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·S VielhaberW S Kunz
Apr 1, 1995·Metabolism: Clinical and Experimental·T L BroderickD J Paulson
Jul 1, 1986·Preventive Medicine·B S Kendler
Dec 1, 1986·Acta Neurologica Scandinavica·M Skard HeierS Landaas
Dec 6, 2005·Clinical Neurology and Neurosurgery·Ebru KarakoçTülay Kansu
Jan 1, 1985·Journal of Neurology·F Cornelio, S Di Donato
Feb 1, 1987·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·M D LevitanG M Sawa
Feb 1, 1992·Metabolism: Clinical and Experimental·A WennbergK Lundholm

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