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Article

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.

Orphanet journal of rare diseases - 4 Mar 2026

Wang Yan, Ma Qingqing, Li WeiDong, Huang Yong, Song Wangsheng, Xu Hongyu, Zhu Peng, Hu Haili

Abstract excerpt

BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inheritedcongenital metabolic enzyme deficiency disorder that can lead to multi-systemdamage, including the nervous, hematopoietic, hepatic, and renal systems, causingsevere symptoms in the neonatal period and long-term nutritional issues. The detection rate of MMA exhibits significant regional variations. This study aims to find out the incidence...

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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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Identifiers

PMID: 41782016
DOI: 10.1186/s13023-026-04225-5
PMCID: PMC13067513

Genes

MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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