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Carnitine–acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects

✍ Scribed by M.E. Rubio-Gozalbo; J.A. Bakker; H.R. Waterham; R.J.A. Wanders

Book ID
116727859
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
185 KB
Volume
25
Category
Article
ISSN
0098-2997

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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