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

作者：Yan Wang, Qingqing Ma, Weidong Li, Yong Huang, Wangsheng Song, Hongyu Xu, Zhu Peng, Haili Hu · 发表于：Orphanet Journal of Rare Diseases · 年份：2026 · DOI：10.1186/s13023-026-04225-5 · 被引用次数：2 · 研究领域：Metabolism and Genetic Disorders、Genomics and Rare Diseases、Amino Acid Enzymes and Metabolism

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 rate, biochemical and molecular characteristics, and follow-up status in the Hefei Neonatal Cohort in China. RESULTS: From 2016 to 2023, 34 MMA cases were confirmed biochemically and genetically, comprising 25 combined-type (73.5%) and 9 isolated-type (26.5%) presentations. MMACHC mutations predominated (68.8%), with c.609G>A accounting for 45.5% of variants. Longitudinal surveillance of 26 MMA patients revealed significant morbidity, with 3 cases (11.5%) succumbing to disease complications during follow-up. Comprehensive assessments identified nutritional deficits in 6 patients (23.1%) and neurodevelopmental delays in 4 cases (15.4%), highlighting the multisystemic nature of MMA progression. CONCLUSION: This study provides a comprehensive characterization of the epidemiological, genetic, and clinical profiles of MMA in the Hefei neonatal cohort. Our results confirm a substantial burden of MMA in this Chinese population. The high morbidity and mortality observed, alongside significant nutritional and neurodevelopmental complications, underscore the multisystemic impa...