Evidence map›Paper›PMID 41399536›Full record

ArticleMolecular genetics and metabolism reports2025

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Alicia Guertin, Raoul Kanav Khanna, Marine Tardieu, Maud François, Hélène Blasco, Isabelle Benz de Bretagne, Jean-François Benoist, Adrien Bigot, Nathalie Tressel, François Maillot and 1 more

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Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Alicia GuertinCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
Raoul Kanav KhannaCHRU Tours, Department of Ophthalmology, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France.
Marine TardieuCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
Maud FrançoisCHRU Tours, Service de néphrologie-HTA, dialyses et transplantation rénale, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours cedex9, France.
Hélène BlascoCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
Isabelle Benz de BretagneCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
Jean-François BenoistDepartment of Biochemistry, Hôpital Necker, AP-HP, and Université Paris-Saclay, Paris, France.
Adrien BigotCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
Nathalie TresselCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
François MaillotCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.
François LabartheCHRU Tours, Reference Center for Inborn Errors of Metabolism ToTeM, Hôpital Clocheville and hôpital Bretonneau, 49 boulevard Béranger, 37 044 Tours Cedex 1, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Methylmalonic acidemia (MMA) caused by complete or partial deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (mut Case report: We present the case of an 18-year-old woman with isolated mut° MMA and with chronic kidney disease stage 3 who presented with a rapid decline in distance and near visual acuity in both eyes. Goldmann visual field perimetry revealed bilateral central relative scotomas with preserved peripheral vision. Visual evoked potentials were unstructured in both eyes, despite normal retinal imaging, indicating optic neuropathy. Metabolic testing revealed elevated levels of methylmalonic acid in both plasma and urine, and increased lactate levels in the plasma and cerebrospinal fluid. Based on the hypothesis of subacute toxicity from methylmalonic acid metabolites, intensive intermittent hemodialysis was initiated, which rapidly decreased the patient's plasma methylmalonic acid level. We also added an oral supplement of coenzyme Q10 and vitamin E. With this treatment, the patient's vision rapidly recovered, and visual function normalized five months later. No progression of optic neuropathy occurred in the eight years follow up after a combined liver/kidney transplant procedure. Conclusion: 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.

Indexed as

Long-term complicationMethylmalonyl-CoA mutaseMitochondrial diseaseOptic neuropathy

Identifiers

PMID41399536
PMCPMC12702248

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