Transport of carnitine into cells in hereditary carnitine deficiency

descriptionPublicationkeyboard_double_arrow_right Article 18 Oct 1988 English Publisher:WileyJournal:Journal of Inherited Metabolic Disease, volume 12, pages 108-111 (issn: 0141-8955, eissn: 1573-2665,

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Authors: B O, Eriksson; B, Gustafson; S, Lindstedt; I, Nordin;

doi: 10.1007/bf01800711

pmid: 2502670

Transport of carnitine into cells in hereditary carnitine deficiency

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Abstract

SummaryCarnitine 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.

Related Organizations

University of Gothenburg
Sweden

Keywords

Kinetics, Carnitine, Mutation, Humans, Biological Transport, Female, Fibroblasts, Cells, Cultured

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