AI Article Synopsis
- Methylmalonic acidemia (MMA) displays non-specific symptoms like vomiting and developmental delays, but this is the first reported case of MMA alongside a pulmonary fungal infection.
- A newborn was diagnosed with MMA after exome sequencing identified specific genetic variants inherited from both parents.
- This study suggests that invasive fungal infections can occur in infants with MMA, highlighting the importance of early diagnosis for unexplained respiratory infections.
Article Abstract
Background: Methylmalonic acidemia (MMA) is characterized by non-specific symptoms such as vomiting, and feeding difficulties, along with delayed mental and physical development. However, no case of MMA combined with pulmonary fungal infection has been reported yet.
Case Summary: We report the case of a neonate who presented pulmonary fungal infection along with the non-specific features of MMA. Exome sequencing revealed a c.331C>T variant in exon 3 of from the father, and a c.658-c.660delAAG variant in exon 4 from the mother, which confirmed the diagnosis of cblC type MMA combined with hyperhomocysteinemia.
Conclusion: Invasive fungal infection might occur in some infants with MMA. Therefore, early diagnosis is recommended for unexplained pulmonary infection.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10731181 | PMC |
| http://dx.doi.org/10.12998/wjcc.v11.i34.8158 | DOI Listing |
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