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Optic neuropathy in methylmalonic acidemia: the role of neuroprotection

  • Case Report
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Journal of Inherited Metabolic Disease


We report the case of a patient with an optic neuropathy induced by neurotoxicity in the setting of methylmalonic acidemia. The patient responded with a significant and long-term improvement in visual acuity, perimetry, and chromatic function after a neuroprotective treatment with vitamin E and coenzyme Q10 was started. Coenzyme Q10 levels had been proven to be normal before starting treatment. This case report is particularly important because it describes a possible treatment for optic neuropathy in methylmalonic patients. Although the response might be, in part, specific to the individual, it suggests the existence of a cause–effect relationship between the treatment undergone by our patient and the improvement in her visual acuity. To date, no other treatments with beneficial effects have been reported for the few optic neuropathies caused by methylmalonic acidemia. Further studies should determine the applicability of coenzyme Q10 and vitamin E for the treatment of optic neuropathies in methylmalonic acidemia.

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Methylmalonic acidemia


Methylmalonic–CoA mutase


Coenzyme Q10


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We acknowledge support from O+IKER (Basque Institute for Healthcare Research, Basque Foundation for Healthcare Innovation and Research), Red SAMID (Red de Salud Materno-Infantil y del Desarrollo RD08/0072/0036—Spanish Research Network for Maternal and Child HealtVEPmh and Development).

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Correspondence to Sergio Pinar-Sueiro.

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Communicated by: Matthias Baumgartner

References to electronic database: Methylmalonic aciduria: OMIN 251000; Methylmalonyl-CoA mutase: EC

Competing interest: None declared.

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Pinar-Sueiro, S., Martínez-Fernández, R., Lage-Medina, S. et al. Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. J Inherit Metab Dis 33 (Suppl 3), 199–203 (2010).

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