To investigate the onset age, phenotypes, genotypes, and biochemical features of methylmalonic acidemia (MMA) in 79 children from a single center in Shandong Province, highlighting the significance for early diagnosis and management.
Approach:
Key Findings:
47 patients had combined MMA with hyperhomocysteinemia, while 32 had isolated MMA.
Symptoms could occur at any age, with early-onset patients showing more severe symptoms and worse prognosis.
Common symptoms included delayed growth, motor disorders, intellectual disability, vomiting, and feeding difficulties.
Isolated MMA patients reported more frequent vomiting and hyperglycemia.
89 mutation sites were identified in combined MMA, with c.609G>A being the most prevalent; isolated MMA had 64 mutation sites with c.729_730insTT as the most frequent.
Regular treatment led to significant improvements in motor and intellectual disabilities for early diagnosed patients, with specific imaging findings noted.
Interpretation:
The study highlights significant heterogeneity in clinical features, biochemical abnormalities, and imaging findings among MMA patients, contributing to a better understanding of the disorder and its management.
Limitations:
The study is retrospective and limited to a single center, which may affect the generalizability of the findings to other regions or populations.
Conclusion:
The findings provide valuable insights into the clinical features of MMA, emphasizing the importance of early diagnosis and management strategies.
