Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report
According to the case report, plasma VLCFA levels can be normal in patients with PBDs in the Zellweger spectrum. Furthermore, we could re-classify the c.1992G > C variant in the PEX6 gene from VUS to likely pathogenic based on clinical manifestations including facial dysmorphism, and hearing impairment.
Authors
- Narges Hashemi (ORCID: https://orcid.org/0000-0002-1767-7873)
- Parvaneh Layegh (ORCID: https://orcid.org/0000-0001-6436-686X)
- Mehran Beiraghi Toosi (ORCID: https://orcid.org/0000-0002-0569-1117)
- Reza Rezaie
- Najmeh Ahangari
- Ehsan Ghayoor Karimiani
- Bita Barazandeh Shirvan
Institutions
- Mashhad University of Medical Sciences (IR)
- Iranian Legal Medicine Organization (IR)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1186/s12887-024-05246-4
- Citations
- 3
- Primary Topic
- Peroxisome Proliferator-Activated Receptors
- Type
- article
- Field-Weighted Citation Impact
- 0.70