Definition and Characteristics
Deficiencies of the enzymes carnitine palmitoyltransferase (CPT) I and II are autosomal recessive diseases due to impaired beta-oxidation of long-chain fatty-acids. Transport of long-chain fatty-acid into mitochondria depends on the carnitine shuttle consisting of CPT I and II and acylcarnitine translocase (Fig. 1).
Scheme of the carnitine transporter system of long-chain fatty acids through the inner mitochondrial membrane.
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Deschauer, M., Zierz, S. (2009). Carnitine Palmitoyltransferase II Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_421
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DOI: https://doi.org/10.1007/978-3-540-29676-8_421
Publisher Name: Springer, Berlin, Heidelberg
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