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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

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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.
Literature
2.
go back to reference Bozaci Ayse Ergül., Er Esra., Ünal Aysel Tekmenuray., Taş İbrahim., Ayaz Ercan., Ozbek Mehmet Nuri. (2023). Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Mol Genet Metab Rep, 36(undefined), 100979. https://doi.org/10.1016/j.ymgmr.2023.100979 Bozaci Ayse Ergül., Er Esra., Ünal Aysel Tekmenuray., Taş İbrahim., Ayaz Ercan., Ozbek Mehmet Nuri. (2023). Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey. Mol Genet Metab Rep, 36(undefined), 100979. https://​doi.​org/​10.​1016/​j.​ymgmr.2023.100979
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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
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-024-02514-z
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