Article
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.
The Journal of pediatrics - 1 Mar 1998
Morris A A, Olpin S E, Brivet M, Turnbull D M, Jones R A, Leonard J V
Abstract excerpt
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...
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