Journal of Inherited Metabolic Disease

, Volume 19, Issue 2, pp 185–187 | Cite as

Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency

  • B. S. Jakobs
  • R. J. A. Wanders
Short Communication


Public Health Internal Medicine Metabolic Disease Human Skin Acid Oxidation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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  1. Jakobs BS, Wanders RJA (1995) Fatty acid oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.Biochem Biophys Res Commun 213: 1035–1041.Google Scholar
  2. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM (1993) Carnitine/acylcarnitine translocase deficiency with severe hypoglycemia and auriculo-ventricular block.J Clin Invest 91: 1247–1252.Google Scholar
  3. Pollitt RJ (1995) Disorders of mitochondrial long-chain fatty acids oxidation.J Inher Metab Dis 18: 473–490.Google Scholar
  4. Reddy JK, Mannaerts GP (1994) Peroxisomal lipid metabolism.Annu Rev Nutr 14: 343–370.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • B. S. Jakobs
    • 1
  • R. J. A. Wanders
    • 1
  1. 1.Academic Medical Centre, Departments of Clinical Chemistry and PediatricsUniversity Hospital AmsterdamAmsterdamThe Netherlands

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