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Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion

Crossref DOI link: https://doi.org/10.1007/s10072-025-08634-5

Published Online: 2026-01-02

Published Print: 2026-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Borel, Flavie

Thauvin, Christel

Schiff, Manuel

Duffourd, Yannis

Tran Mau Them, Frederic

Philippe, Christophe

Mochel, Fanny

Thomas, Quentin https://orcid.org/0000-0003-1185-1663
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Text and Data Mining valid from 2026-01-01

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Article History

Received: 11 June 2025

Accepted: 17 November 2025

First Online: 2 January 2026

Declarations

:

: This is an observational study. The Dijon Burgundy University Hospital Research Ethics Committee has confirmed that no ethical approval is required.

: All participants or their legal representatives gave their informed consent for their anonymized data to be used in a scientific publication.

: The authors have no relevant financial or non-financial interests to disclose.

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