Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia

BackgroundMethylmalonic acidemia (MMA), the most prevalent organic acidemia in China, is an autosomal recessive disorder. Neonatal-onset MMA often presents with non-specific manifestation, often causing diagnostic delays.MethodsA retrospective analysis was conducted on the clinical data, laboratory...

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Autori principali:	Qun Xu, Lili Kang, Huiting Yv, Yunxia Li, Chen Liu, XiaoYing Li
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-06-01
Serie:	Frontiers in Pediatrics
Soggetti:	clinical characteristics gene mutation methylmalonic acidemia MMACHC gene MMUT gene neonatal onset
Accesso online:	https://www.frontiersin.org/articles/10.3389/fped.2026.1708194/full
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