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Article

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology - 1 Jul 2026

Gokalp Sabire, Basan Hacer, Olgac Asburce, Kucukcongar Yavas Aynur, Kilic Mustafa

Abstract excerpt

BACKGROUND: Acyl-conezyme A (CoA) synthetase family member 3 ( ACSF3 ) related combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism involving defective activation of malonic and methylmalonic acids to CoA derivatives. The resulting deficiency of malonyl-CoA disrupts mitochondrial fatty acid synthesis, lipid metabolism, and protein malonylation. Although regarded as a benign...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42100905
DOI: 10.1097/MCD.0000000000000569

Genes

ACSF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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