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Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans

✍ Scribed by Patricia Pérez; Óscar Martı́nez; Beatriz Romero; Israel Olivas; Ana M. Pedregosa; Ferdinando Palmieri; Fernando Laborda; J. Ramón De Lucas


Book ID
117730650
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
336 KB
Volume
39
Category
Article
ISSN
1087-1845

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The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria. CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy