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Article

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations.

Molecular genetics & genomic medicine - 1 Aug 2026

Belmessieri Barbara, Brunetti Sara, Malerba Laura, Martelli Paola, Giordano Lucio, Plumari Massimo, Errichiello Edoardo, Accorsi Patrizia

Abstract excerpt

INTRODUCTION: Type VIII 3-methylglutaconic aciduria (MGCA8) is a neurodegenerative disorder which involves biallelic pathogenic variants of HTRA2. This gene encodes a mitochondrial serine protease responsible for apoptosis regulation and mitochondrial proteins' quality. Clinical manifestations include dysfunctional muscle tone, movement disorder, severe encephalopathy, epileptic seizures, dysautonomia, feeding...

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Identifiers

PMID: 42581774
DOI: 10.1002/mgg3.70278
PMCID: PMC13463127

Genes

HTRA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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