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Article

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Orphanet journal of rare diseases - 15 May 2024

Su Ling, Sheng Huiying, Li Xiuzhen, Cai Yanna, Mei Huifen, Cheng Jing, Li Duan, Lu Zhikun, Lin Yunting, Chen Xiaodan, Peng Minzhi, Huang Yonglan, Zhang Wen, Liu Li

Abstract excerpt

BACKGROUND: Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show diverse clinical and genetic features across different subtypes and populations. METHODS: We retrospectively recruited 60 MMA patients from a single center and diagnosed them based on their clinical...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38750596
DOI: 10.1186/s13023-024-03210-0
PMCID: PMC11097538

Genes

MMUT
MMACHC
C3
MMAA
SUCLA2

Provenance

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