Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2001 Feb;160(2):101-4.
doi: 10.1007/s004310000644.

Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome

E Lopriore  1 , R J Gemke, N M Verhoeven, C Jakobs, R J Wanders, A B Roeleveld-Versteeg, B T Poll-The
Affiliations
Review

Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome

E Lopriore et al. Eur J Pediatr. 2001 Feb.

Abstract

Carnitine-acylcarnitine translocase deficiency is a rare and life-threatening mitochondrial fatty acid beta-oxidation disorder. We describe a patient who, despite a severe clinical course and an extremely low carnitine-acylcarnitine translocase activity, is currently alive and in good health. We performed an extensive analysis of all previously published cases in order to evaluate the clinical features and prognostic factors. Reports on 21 patients with carnitine-acylcarnitine translocase deficiency were obtained. Only 5 out of the 21 patients survived early childhood. At least 20 siblings are reported to have died of sudden unexplained death in the neonatal period. Although phenotype and residual enzyme activity have been suggested to be related to outcome, we were not able to establish such a relationship.

Conclusion: Phenotype and residual enzyme activity do not appear to be major prognostic factors. Vigorous work-up in order to reach an expedite diagnosis and prompt medical intervention during acute episodes, especially in the neonatal period, may prevent fatal complications.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

MeSH terms

Substances

LinkOut - more resources