title: A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.
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.
authors.affiliation: Institute of Child Health, London, United Kingdom.
authors.forename: A A
authors.initials: AA
authors.lastname: Morris
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: M
authors.initials: M
authors.lastname: Brivet
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: R A
authors.initials: RA
authors.lastname: Jones
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D001786:Blood Glucose; D002331:Carnitine / Q000097:blood; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D010641:Phenotype
chemical_list: D001786:Blood Glucose; D002333:Carnitine Acyltransferases; D002331:Carnitine