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Related Experiment Video

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Methylmalonic acidemia: Current status and research priorities.

Xiaoyan Zhou1, Yazhou Cui1, Jinxiang Han1

  • 1Shandong Academy of Medical Science, Shandong Medical Biotechnological Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Ji'nan, China.

Intractable & Rare Diseases Research
|June 5, 2018
PubMed
Summary

Methylmalonic acidemia (MMA) is a severe metabolic disorder affecting vitamin B12 metabolism. This review details MMA pathogenesis, diagnosis, and treatment, highlighting Chinese patient data and common mutations for improved healthcare.

Keywords:
ChinaMethylmalonic acidemiadiagnosisepidemiological datahot mutation sitestreatment

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Methylmalonic acidemia (MMA) is a severe, heterogeneous metabolic disorder impacting methylmalonate and cobalamin (vitamin B12) metabolism.
  • It presents as isolated methylmalonic acidurias or combined methylmalonic aciduria and homocystinuria, each linked to distinct genetic mutations.

Purpose of the Study:

  • To review advancements in the pathogenesis, diagnosis, and treatment of MMA.
  • To present epidemiological data and common mutation sites for MMA patients in China.

Main Methods:

  • Literature review of MMA pathogenesis, diagnosis, and treatment.
  • Compilation and analysis of reported epidemiological data and mutation sites in Chinese MMA patients.

Main Results:

  • Identified c.729_730insTT as the most frequent mutation in Chinese isolated MMA patients.
  • Reported c.609G>A and c.658_660delAAG as prevalent mutations in Chinese cblC type MMA patients.
  • Provided estimated newborn screening incidences in various Chinese provinces, ranging from 1:3,920 to 1:26,000, with higher incidences (0.3%-1.32%) in broader screening of suspected inherited metabolic diseases.

Conclusions:

  • Understanding specific mutation profiles and epidemiological data in China is crucial for targeted healthcare strategies.
  • This review provides valuable insights for improving the diagnosis and management of MMA in the Chinese population.