Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Carnitine palmitoyltransferase I (CPT I) catalyzes the formation of acylcarnitine, the first step in the oxidation of long-chain fatty acids in mitochondria. The enzyme exists as liver (L-CPT I) and muscle (M-CPT I) isoforms that are encoded by separate genes. Genetic deficiency of L-CPT I, which ha...

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Bibliographic Details
Main Authors: Nicholas F. Brown, Rashmi S. Mullur, Indhu Subramanian, Victoria Esser, Michael J. Bennett, Jean-Marie Saudubray, Annette S. Feigenbaum, Joyce A. Kobari, Patrick M. Macleod, J. Denis McGarry, Jonathan C. Cohen
Format: Article
Language:English
Published: Elsevier 2001-07-01
Series:Journal of Lipid Research
Subjects:
hypoketotic hypoglycemia
acylcarnitine
fatty acid oxidation
fasting
malonyl-CoA
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520316047

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http://www.sciencedirect.com/science/article/pii/S0022227520316047

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