Transport of carnitine into cells in hereditary carnitine deficiency
- 1 June 1989
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 12 (2) , 108-111
- https://doi.org/10.1007/bf01800711
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.This publication has 13 references indexed in Scilit:
- Hereditary defect in carnitine membrane transport is expressed in skin fibroblastsEuropean Journal of Pediatrics, 1988
- Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts.Proceedings of the National Academy of Sciences, 1987
- Carnitine transport in rat small intestineAmerican Journal of Physiology-Gastrointestinal and Liver Physiology, 1983
- Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transportThe Journal of Pediatrics, 1982
- Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiencyIn Vitro Cellular & Developmental Biology - Plant, 1982
- Carnitine uptake and fatty acid utilization by diploid cells aging in cultureArchives of Biochemistry and Biophysics, 1982
- Systemic Carnitine Deficiency Presenting as Familial Endocardial FibroelastosisNew England Journal of Medicine, 1981
- Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's SyndromeNew England Journal of Medicine, 1980
- Properties of carnitine transport in rat kidney cortex slicesBiochimica et Biophysica Acta (BBA) - Biomembranes, 1980
- Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup diseaseJournal of Clinical Investigation, 1972