 Fabry disease is a rare inherited disorder caused by a lack of the enzyme alpha galactosidase A, alpha galA, which leads to the accumulation of a particular type of fatty substances called globotryosilceramide, GL3-ser, in cells throughout the body. In this case, a 46-year-old male presented with progressive kidney disease, which was confirmed via a kidney biopsy to be due to Fabry disease. Genetic testing revealed a novel mutation in the galA gene C174GXON3, which led to the development of Fabry disease. Despite having residual alpha galA activity, the patient developed severe potasite activation after three years of enzyme replacement therapy, ERT. This case highlights the importance of monitoring for ERT efficacy over time, as well as the potential for long-term complications even when ERT is effective. This article was authored by Jorge H. Muxi, Silvina Gutierrez, Bullen Barron, and others. We are article.tv, links in the description below.