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Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant.

Genes - 26 Jun 2026

Beyzaei Zahra, Dehghani Seyed Mohsen, Geramizadeh Bita, Weiskirchen Ralf

Abstract excerpt

Background/Objectives: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder marked by developmental delay, intellectual disability, and progressive movement abnormalities. Variants in RYR1 can cause congenital myopathies, but data on the co-occurrence of variants in populations are limited. The aim of this study was to characterize the clinical and genetic basis of the...

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Source

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Identifiers

PMID: 42510775
DOI: 10.3390/genes17070735
PMCID: PMC13409425

Genes

RYR1
L2HGDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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