To elucidate the clinical presentation, biochemical and mass spectrometry characteristics, and genetic mutation profiles of neonatal-onset MMA, highlighting the importance of early diagnosis.
Key Findings:
32 patients had combined MMA and 13 had isolated MMA.
Common clinical manifestations included feeding difficulties (60.0%), failure to thrive (57.8%), jaundice (46.7%), respiratory distress (40.0%), and impaired consciousness (28.9%).
Key laboratory findings included hyperammonemia (40.0%), macrocytic anemia (33.3%), and granulocytopenia (31.1%).
96.8% of combined MMA patients had MMACHC mutations, while all isolated MMA patients had MMUT mutations.
Interpretation:
Neonatal-onset MMA presents with a range of non-specific clinical phenotypes, such as feeding difficulties and jaundice, necessitating prompt screening for timely diagnosis.
Limitations:
Retrospective design may limit the comprehensiveness of data and introduce biases.
Small sample size may affect the generalizability of findings.
Conclusion:
Early recognition of MMA symptoms and genetic testing is crucial for improving patient outcomes, particularly in the context of non-specific clinical signs.
