Carnitine metabolism and inborn errors

descriptionPublicationkeyboard_double_arrow_right Article , Part of book or chapter of book 01 Jan 1984 English Publisher:WileyJournal:Journal of Inherited Metabolic Disease, volume 7, pages 38-43 (issn: 0141-8955, eissn: 1573-2665,

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Authors: A G, Engel; C J, Rebouche;

doi: 10.1007/bf03047372 , 10.1007/978-94-009-5612-4_9

pmid: 6434843

Carnitine metabolism and inborn errors

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Abstract

AbstractCurrent 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.

Related Organizations

Mayo Clinic
United States

Keywords

Male, Carnitine, Muscles, Humans, Female, Syndrome, Child, Metabolism, Inborn Errors

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