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Reduced tissue "carnitine-acylcarnitine" translocase activity
- ... important energy source for the liver and other tissues. More than 70 mutations in the CPT2 gene have been found to cause carnitine palmitoyltransferase II (CPT II) deficiency. These mutations lead to reduced activity of carnitine palmitoyltransferase 2. Mutations that lead to ...
- ... Wanders RJ, Roeleveld-Versteeg AB, Poll-The BT. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr. 2001 Feb;160( ...
- ... important energy source for the liver and other tissues. ... severely reduce or eliminate the activity of this enzyme. Without enough of this enzyme, ...