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Prospective treatment in carnitine–acylcarnitine translocase deficiency

✍ Scribed by G. Pierre; A. Macdonald; G. Gray; C. Hendriksz; M. A. Preece; A. Chakrapani


Book ID
106374189
Publisher
Springer
Year
2007
Tongue
English
Weight
199 KB
Volume
30
Category
Article
ISSN
0141-8955

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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