The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review
The prognosis of COQ4 mutation in the neonatal period indicates a low survival rate and an poor prognosis. This may be due to the incomplete understanding of the mechanism of how COQ4 gene defects lead to coenzyme Q10 deficiency and why CoQ10 supplementation does not respond well to treatment. To improve the diagnostic rate, in addition to genetic testing, mitochondrial functional verification should be prioritized in southern China, where the incidence is relatively high. It will facilitate more in-depth mechanistic studies.
Authors
- Yi Sun (ORCID: https://orcid.org/0000-0001-9177-6557)
- Jin-Young Han (ORCID: https://orcid.org/0000-0002-6500-3945)
- Zhengrong Chen (ORCID: https://orcid.org/0000-0002-2908-0820)
- Wei Zhou (ORCID: https://orcid.org/0000-0002-9309-5832)
- Na Zhou (ORCID: https://orcid.org/0000-0001-6953-1617)
- Pianpian Pan
Institutions
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.3389/fped.2024.1410133
- Citations
- 2
- Primary Topic
- Coenzyme Q10 studies and effects
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Guangzhou Medical University
- Basic and Applied Basic Research Foundation of Guangdong Province