Article

Late-onset methylmalonic acidemia with a rare MMACHC c.457C>T mutation: a case report and literature review

2025-11-11

Abstract excerpt

<title>Abstract</title> <p> Background Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder with heterogeneous clinical phenotypes. The combined form of MMA associated with <italic>MMACHC</italic> mutations (cblC type) is the most common subtype in China. Late-onset MMA often presents with atypical manifestations, which frequently lead to misdiagnosis and delayed treatment. Case presen...

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Literature Corpus work: af865038-0ffd-5fae-b5f1-a8d8bc3d7aca
DOI: 10.21203/rs.3.rs-7649582/v1

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