Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report
This case highlights the difficulty of diagnosing carnitine palmitoyltransferase II deficiency in an infant and the importance of genetic analysis to establish the diagnosis, despite a normal acylcarnitine profile.
Authors
- Aurélie Empain (ORCID: https://orcid.org/0000-0002-2641-0150)
- Pascale Perlot
- Angelika Krug
- Catheline Vilain (ORCID: https://orcid.org/0000-0002-4443-9643)
- Kaoutar Tazi (ORCID: https://orcid.org/0000-0002-6792-6161)
- Anne Monier
- Corinne De Laet
Institutions
- Université Libre de Bruxelles (BE)
- Queen Fabiola Children's University Hospital (BE)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-06-22
- DOI
- https://doi.org/10.1186/s13256-025-05350-8
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00