MMA_Genotype-MetabolomicsQ300

Published: 23 May 2026| Version 1 | DOI: 10.17632/dkjh3kbx3r.1
Contributor:
Haijuan Zhi

Description

Methylmalonic acidemia (MMA) is an inherited organic acid metabolic disease, with mut (mut-MMA) and cblC (cblC-MMA) being the predominant subtypes in China. MMA patients carrying c.729_730insTT and c.609G>A exhibit severe clinical manifestations and have poorer outcomes. Metabolic profiles and the influence of specific mutation sites on the metabolic features of mut-MMA and cblC-MMA patients were accessed via the targeted metabolomics.

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