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Article

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Clinical epigenetics - 19 Apr 2026

Škopková Martina, Kabelíková Pavlína, Andrésová Andrea, Brennerová Katarína, Dallemule Silvia, Sabo Miroslav, Petrovič Róbert, Gašperíková Daniela

Abstract excerpt

Mutations in the MMACHC gene lead to autosomal recessive combined methylmalonic aciduria and homocystinuria (cblC type). Additionally, specific mutations in the downstream, inversely oriented PRDX1 gene that result in aberrant PRDX1 transcripts overlapping the MMACHC promoter lead to its methylation and consequent downregulation of expression. This type is called epi-cblC and can be due to bi-allelic PRDX1...

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Source

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Identifiers

PMID: 42002808
DOI: 10.1186/s13148-026-02135-8
PMCID: PMC13366942

Genes

MMACHC
PRDX1

Variants

Provenance

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

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