title: Transport of carnitine into cells in hereditary carnitine deficiency.
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.
authors.affiliation: Department of Pediatrics, Gothenburg University, East Hospital, Sweden.
authors.forename: B O
authors.initials: BO
authors.lastname: Eriksson
authors.forename: B
authors.initials: B
authors.lastname: Gustafson
authors.forename: S
authors.initials: S
authors.lastname: Lindstedt
authors.forename: I
authors.initials: I
authors.lastname: Nordin
mesh_terms: D001692:Biological Transport; D002331:Carnitine / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D009154:Mutation
chemical_list: D002331:Carnitine