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

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

  • By

  • Qun Xu

  • Lili Kang

  • Huiting Yv

  • Yunxia Li

  • Chen Liu

  • XiaoYing Li

  • June 5, 2026

  • 0 min

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  • 1

    Methylmalonic acidemia (MMA) is an autosomal recessive disorder, prevalent in China, presenting with non-specific symptoms that delay diagnosis.

  • 2

    In a study of 45 neonatal-onset MMA patients, common symptoms included feeding difficulties (60%) and failure to thrive (57.8%).

  • 3

    Genetic analysis revealed that 96.8% of combined MMA patients had MMACHC mutations, while all isolated MMA patients had MMUT mutations.

  • 4

    Isolated MMA patients exhibited earlier declines in free carnitine and higher ammonia levels compared to combined MMA patients.

  • 5

    Early diagnosis through screening for unexplained symptoms is crucial for improving outcomes in neonatal-onset MMA.

Original Source(s)

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

  • by Qun Xu, Lili Kang, Huiting Yv, Yunxia Li, Chen Liu, XiaoYing Li

  • June 5, 2026

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