Carnitine metabolism and inborn errors

A. G. Engel; C. J. Rebouche

doi:10.1007/BF03047372

Carnitine metabolism and inborn errors

A. G. Engel, C. J. Rebouche

Neurology

Research output: Contribution to journal › Article › peer-review

115 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	38-43
Number of pages	6
Journal	Journal of inherited metabolic disease
Volume	7
Issue number	1 Supplement
DOIs	https://doi.org/10.1007/BF03047372
State	Published - Mar 1984

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF03047372

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title = "Carnitine metabolism and inborn errors",

abstract = "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.",

author = "Engel, {A. G.} and Rebouche, {C. J.}",

year = "1984",

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AU - Engel, A. G.

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AB - 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.

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IS - 1 Supplement

ER -

Carnitine metabolism and inborn errors

Abstract

ASJC Scopus subject areas

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