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Transport of carnitine into cells in hereditary carnitine deficiency
Author(s) -
Eriksson B. O.,
Gustafson B.,
Lindstedt S.,
Nordin I.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800711
Subject(s) - carnitine , endocrinology , medicine , cell , chemistry , biology , biochemistry
Summary 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.