A PATIENT WITH CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH A MILD PHENOTYPE

Authors
MORRIS AAM OLPIN SE BRIVET M TURNBULL DM JONES RAK LEONARD JV
Citation
Aam. Morris et al., A PATIENT WITH CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH A MILD PHENOTYPE, The Journal of pediatrics, 132(3), 1998, pp. 514-516
Citations number
9
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
132
Issue
3
Year of publication
1998
Part
1
Pages
514 - 516
Database
ISI
SICI code
0022-3476(1998)132:3<514:APWCTD>2.0.ZU;2-K
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 th e benign clinical course.