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Article

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2025

Ersoy Melike, Abali Zehra Yavas, Papatya Cakir Esra Deniz, Erdin Soner, Yararbas Kanay, Abali Saygin

Abstract excerpt

OBJECTIVES: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited metabolic disorder caused by ACSF3 variants leading to malonyl-CoA synthetase (MCS) deficiency. Despite its well-defined genetic basis, the clinical spectrum of CMAMMA remains highly variable. CASE PRESENTATION: This study reports six patients from three unrelated families, aged 12 days to 30 years, presenting with heterogeneous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40960910
DOI: 10.1515/jpem-2025-0208

Genes

ACSF3
BTD
CDK10
CHRNG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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