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Acta Neurologica Belgica
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04-05-2024 | Disorders of Intellectual Development | Review article

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report

Authors: Siqi Ding, E Yajun, Yucang He

Published in: Acta Neurologica Belgica | Issue 4/2024

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Abstract

L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, autosomal recessive neurometabolic disease, which presents with elevated L-2-hydroxyglutarate acid. Generally, L2HGA appear as slowly progressing central nervous system function deterioration during infancy, and a rapid progression in adulthood is uncommon for the syndrome’s classic phenotype.
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Metadata
Title
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report
Authors
Siqi Ding
E Yajun
Yucang He
Publication date
04-05-2024
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 4/2024
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-024-02514-z

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