A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype.
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.
Morris
A A
AA
Institute of Child Health, London, United Kingdom.
Olpin
S E
SE
Brivet
M
M
Turnbull
D M
DM
Jones
R A
RA
Leonard
J V
JV
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
D001786:Blood Glucose; D002333:Carnitine Acyltransferases; D002331:Carnitine