Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia
Patients with B12-NR type MMA exhibit worse neurodevelopmental outcomes and more pronounced biochemical imbalances compared to those with B12-R type. Significant correlations were observed between higher fluctuation frequencies of toxic metabolites and lower developmental and IQ scores. These findings emphasize the importance of targeted strategies to manage organic acid fluctuations for improving neurodevelopmental outcomes in MMA.
Authors
- Cheng‐Yu Lee (ORCID: https://orcid.org/0000-0003-2291-1297)
- I-Chih Ling (ORCID: https://orcid.org/0009-0004-5548-3633)
- Chia‐Feng Yang (ORCID: https://orcid.org/0000-0001-5739-5216)
- Sheng-Bin Liang
- Yann-Jang Chen
- Dau‐Ming Niu
Institutions
- National Yang Ming Chiao Tung University (TW)
- Taipei Veterans General Hospital (TW)
- Taipei City Hospital (TW)
- Wan Fang Hospital (TW)
- Cardinal Tien Hospital (TW)
- Taipei Medical University (TW)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1186/s13023-025-03687-3
- Citations
- 3
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.96