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: A A Morris, S E Olpin, M Brivet, D M Turnbull, R A Jones, J V Leonard
• Journal: The Journal of pediatrics (J Pediatr) Vol. 132 Issue 3 Pt 1 Pg. 514-6 (Mar 1998) ISSN: 0022-3476 [Print] United States
• PMID: 9544911 (Publication Type: Case Reports, Journal Article)

Chemical References

• Blood Glucose
• Carnitine Acyltransferases
• Carnitine

Topics

• Blood Glucose
• Carnitine (blood)
• Carnitine Acyltransferases (deficiency)
• Humans
• Infant, Newborn
• Male
• Metabolism, Inborn Errors (genetics)
• Phenotype