Top

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

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.

Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne M, Tabarki B (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA 101:16849–16854. https://doi.org/10.1073/pnas.0404840101CrossRefPubMedPubMedCentral

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

Zübarioğlu Tanyel., Yalçınkaya Cengiz., Oruç Çiğdem., Kıykım Ertuğrul., Cansever Mehmet Şerif., Gezdirici Alper. (2020). Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria. Turk Pediatri Ars, 55(3), 290–298. https://doi.org/10.14744/TurkPediatriArs.2019.06926

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolome MT, Aerssens P (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390. https://doi.org/10.1002/humu.21197CrossRefPubMed

Rzem R, Van Schaftingen E, Veiga-da-Cunha M (2006) The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 88:113–116. https://doi.org/10.1016/j.biochi.2005.06.005CrossRefPubMed

Saidha S, Murphy S, McCarthy P, Mayne PD , Hennessy M (2010) L-2-hydroxyglutaric Aciduria diagnosed in an adult presenting with acute deterioration. J Neurol 257:146–148. https://doi.org/10.1007/s00415-009-5319-8

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
Keywords: Disorders of Intellectual Development
Intellectual Disability
Published in: Acta Neurologica Belgica
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-024-02514-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content