Journal of Inherited Metabolic Disease

, Volume 26, Issue 6, pp 613–615

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

  • U. Spiekerkoetter
  • G. Huener
  • T. Baykal
  • M. Demirkol
  • M. Duran
  • R. Wanders
  • J. Nezu
  • E. Mayatepek
Article

DOI: 10.1023/A:1025968502527

Cite this article as:
Spiekerkoetter, U., Huener, G., Baykal, T. et al. J Inherit Metab Dis (2003) 26: 613. doi:10.1023/A:1025968502527

Abstract

A family of Turkish origin with primary systemic carnitine deficiency in the father and his two sons is described. In all three individuals, the same homozygous mutation in the OCTN2 gene (R471H) was present and carnitine uptake in fibroblasts was deficient. Whereas one boy became symptomatic with a Reye-syndrome-like picture of hepatopathy and encephalopathy in infancy, the other affected family members remained asymptomatic up to their current ages of 28 and 5 years, respectively.

Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • U. Spiekerkoetter
    • 1
  • G. Huener
    • 2
  • T. Baykal
    • 2
  • M. Demirkol
    • 2
  • M. Duran
    • 3
  • R. Wanders
    • 3
  • J. Nezu
    • 4
  • E. Mayatepek
    • 1
    • 5
  1. 1.Clinic of General PediatricsUniversity Children's HospitalDüsseldorfGermany
  2. 2.Division of Nutrition and Metabolism, Department of PediatricsUniversity of IstanbulIstanbulTurkey
  3. 3.Departments of Clinical Chemistry and PediatricsUniversity of Amsterdam, Emma Children's HospitalAmsterdamThe Netherlands
  4. 4.Tsukuba Research LaboratoryChugai Pharmaceutical Co.IbarakiJapan
  5. 5.Clinic of General PediatricsUniversity Children's HospitalDusseldorfGermany