Transport of carnitine into cells in hereditary carnitine deficiency.
J Inherit Metab Dis
; 12(2): 108-11, 1989.
Article
en En
| MEDLINE
| ID: mdl-2502670
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.
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Bases de datos:
MEDLINE
Asunto principal:
Carnitina
Límite:
Female
/
Humans
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
1989
Tipo del documento:
Article
País de afiliación:
Suecia