Article
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
European journal of pediatrics - 1 Feb 2001
Lopriore E, Gemke R J, Verhoeven N M, Jakobs C, Wanders R J, Roeleveld-Versteeg A B, Poll-The B T
Abstract excerpt
UNLABELLED: Carnitine-acylcarnitine translocase deficiency is a rare and life-threatening mitochondrial fatty acid beta-oxidation disorder. We describe a patient who, despite a severe clinical course and an extremely low carnitine-acylcarnitine translocase activity, is currently alive and in good health. We performed an extensive analysis of all previously published cases in order to evaluate the clinical...
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