Phenylketonuria or PKU is an inborn error of metabolism associated with a "mousy" or "musty" odor. This odor is due to a buildup of phenylalanine substances in the body. Recent study explored gut microbiome in adults with PKU and found high levels of Bifidobacterium, Bacillus, Alistipes, Clostridium, Akkermansia, and Bacteroides, while much lower levels of Lactobacillus, Porphyromonas, Frisingicoccus, Blautia, and Faecalibacterium.
REFERENCES
Mancilla VJ, Mann AE, Zhang Y, Allen MS. The Adult Phenylketonuria (PKU) Gut Microbiome. Microorganisms 2021, 9, 530.
