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Carnitine metabolism and inborn errors
Author(s) -
Engel A. G.,
Rebouche C. J.
Publication year - 1984
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/bf03047372
Subject(s) - carnitine , metabolism , inborn error of metabolism , excretion , endocrinology , etiology , human genetics , medicine , biology , biochemistry , gene
Current knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.