Journal of Inherited Metabolic Disease

, Volume 12, Issue 2, pp 108–111

Transport of carnitine into cells in hereditary carnitine deficiency

  • B. O. Eriksson
  • B. Gustafson
  • S. Lindstedt
  • I. Nordin
Article

DOI: 10.1007/BF01800711

Cite this article as:
Eriksson, B.O., Gustafson, B., Lindstedt, S. et al. J Inherit Metab Dis (1989) 12: 108. doi:10.1007/BF01800711

Summary

Carnitine uptake has been studied in fibroblasts from a case of hereditary carnitine deficiency and in relatives. There was no evidence for carrier-dependent uptake in cells from the patient. The mother and probably the healthy sister had an impaired uptake. The results show that the defect in this form of carnitine deficiency is an inability to establish a concentration gradient over the cell membrane.

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • B. O. Eriksson
    • 1
  • B. Gustafson
    • 2
  • S. Lindstedt
    • 2
  • I. Nordin
    • 2
  1. 1.Department of PediatricsGothenburg University, East HospitalGothenburg
  2. 2.Department of Clinical ChemistryGothenburg University, Sahlgren's HospitalGothenburgSweden

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