Mevalonic Aciduria (MEVA)

Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and smallpox, and has symptoms including abdominal pain, arthralgia and diarrhea. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Colchicine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and seizure