A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

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Abstract

Carnitine-acylcarnitine translocase deficiency, a rare beta-oxidation defect, is manifest in most cases by cardiomyopathy and death in early childhood. We report an affected patient, 3 years of age, who has had no serious complications. The residual enzyme activity in fibroblasts was higher than in previously reported patients, which may explain the benign clinical course. (J Pediatr 1998;132:514-6)

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