SNP Shot: Genomic Insights

Trimethylaminuria (TMAU) is a metabolic disorder characterized by the body's inability to properly metabolize trimethylamine (TMA), an organic compound known for its strong, unpleasant odor. TMA is often likened to the smell of rotting fish. Individuals with TMAU accumulate TMA, leading to the release of a distinct fishy odor through their perspiration, urine, and exhalation. The severity of the odor can fluctuate. This odor can significantly impact daily activities, including personal relationships, social interactions, and professional opportunities. Consequently, individuals with TMAU may experience depression and social withdrawal.

Inheritance:

The majority of TMAU cases are inherited through an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must possess variations for the disorder to manifest. Typically, the parents of an affected individual each carry one copy of the altered gene but do not exhibit significant symptoms of the condition themselves. However, carriers of a variant in the *FMO3* gene, which is frequently associated with TMAU, may present with subtle symptoms or experience transient periods of strong body odor.