Published online Dec 6, 2023. doi: 10.12998/wjcc.v11.i34.8158
Peer-review started: July 16, 2023
First decision: October 24, 2023
Revised: November 1, 2023
Accepted: November 24, 2023
Article in press: November 24, 2023
Published online: December 6, 2023
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.
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 MMACHC 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.
Invasive fungal infection might occur in some infants with MMA. Therefore, early diagnosis is recommended for unexplained pulmonary infection.
Core Tip: We have retrospectively reported the case of a neonate with pulmonary Aspergillus infection as the main clinical manifestation, which was later confirmed as methylmalonic acidemia (MMA) by full exon sequencing and blood amino acid/urine organic acid analysis. Our findings provide a novel clinical diagnostic approach for neonatal MMA.