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Functional Analysis of Mutant Human Carnitine Acylcarnitine Translocases in Yeast

✍ Scribed by L. IJlst; C.W.T. van Roermund; V. Iacobazzi; W. Oostheim; J.P.N. Ruiter; J.C. Williams; F. Palmieri; R.J.A. Wanders

Book ID
115587251
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
204 KB
Volume
280
Category
Article
ISSN
0006-291X

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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