Primary Carnitine Deficiency and Cardiomyopathy
Abstract
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial β-oxidation resulting from defective carnitine transport and is one of the rare treatable...
Paper Details
Title
Primary Carnitine Deficiency and Cardiomyopathy
Published Date
Jan 1, 2013
Journal
Volume
43
Issue
12
Pages
785 - 785
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Notes
History