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Transport of carnitine into cells in hereditary carnitine deficiency
B O Eriksson1, B Gustafson, S Lindstedt
1Department of Pediatrics, Gothenburg University, East Hospital, Sweden.
Journal of Inherited Metabolic Disease
|January 1, 1989
Abstract:
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.