Article

Metabolic dysfunction related to specific genetic variant sites of methylmalonic acidemia

2025-12-17

Abstract excerpt

Methylmalonic acidemia (MMA) is a genetic metabolic disease, with mut (mut-MMA, caused by MMUT gene variation) and cblC (cblC-MMA, caused by MMACHC gene variation) being the predominant subtypes. MMA patients carrying c.729_730insTT and c.609G>A exhibit severe clinical manifestations and have poorer outcomes. Little information is known on the potential mechanism. The metabotypes of MMA patients carrying c.729_7...

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Literature Corpus work: bc4dfb13-f97c-529f-a04e-c6d65f32178d
DOI: 10.64898/2025.12.15.694311

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