Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy
Optic neuropathy is a rare long-term complication of isolated MMA, presumably due to the chronic or subacute accumulation of toxic methylmalonic acid metabolites. This case report highlights the importance of early and intensive hemodialysis in achieving favorable visual outcomes by reducing toxic metabolite levels in both blood and central nervous system. In the long-term, liver or combined liver-kidney transplantation should be discussed.
Authors
- Jean‐François Benoist (ORCID: https://orcid.org/0000-0002-5389-8585)
- N. Tressel
- Adrien Bigot (ORCID: https://orcid.org/0000-0002-9488-9669)
- Hélène Blasco (ORCID: https://orcid.org/0000-0001-6107-0035)
- Raoul Kanav Khanna (ORCID: https://orcid.org/0000-0001-6032-1488)
- Isabelle Benz‐de Bretagne (ORCID: https://orcid.org/0000-0001-8563-8801)
- F. Maillot
- M. Tardieu
- F. Labarthe (ORCID: https://orcid.org/0000-0001-9788-9667)
- Maud François
- Alicia Guertin
Institutions
- Université de Tours (FR)
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Bretonneau (FR)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101279
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00