Journal of Inherited Metabolic Disease

, Volume 15, Issue 5, pp 785–789 | Cite as

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

  • C. A. Stanley
  • F. Sunaryo
  • D. E. Hale
  • J. -P. Bonnefont
  • F. Demaugre
  • J. -M. Saudubray
Article

Summary

In a boy with a defect in fatty acid oxidation due to the hepatic form of carnitine palmitoyltransferase-1 deficiency, plasma carnitine concentrations were found to be twice normal. The elevation in plasma carnitine levels was accompanied by an unusually high renal threshold for free carnitine, suggesting a secondary increase in carnitine transport. Similar to other fatty acid oxidation disorders involving the carnitine cycle, urinary dicarboxylic acids were not abnormally elevated during illnesses. The combination of elevated plasma carnitine levels and absence of dicarboxylic aciduria may help to distinguish the hepatic form of carnitine palmitoyltransferase-1 deficiency from other defects in fatty acid oxidation.

Keywords

Public Health Internal Medicine Metabolic Disease Carnitine Fatty Acid Oxidation 

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Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • C. A. Stanley
    • 1
  • F. Sunaryo
    • 2
  • D. E. Hale
    • 1
  • J. -P. Bonnefont
    • 3
  • F. Demaugre
    • 3
  • J. -M. Saudubray
    • 3
  1. 1.Division of Endocrinology/Diabetes, The Children's Hospital of PhiladelphiaUniversity of Pennysylvania School of MedicinePhiladelphiaUSA
  2. 2.Pediatric DepartmentNewark Beth Israel Medical CenterNewarkUSA
  3. 3.Clinique et Unité de Recherche de Génétique MédicaleHôpital des Enfants MaladesParisFrance

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