MVK encodes mevalonate kinase, a cytosolic enzyme that catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, representing a critical regulatory step in isoprenoid and cholesterol biosynthesis 12. The enzyme requires ATP and magnesium ion cofactors and participates in the mevalonate pathway for isopentenyl diphosphate production 3. Beyond lipid metabolism, MVK function extends to innate immune regulation, as GO annotations indicate its involvement in negative regulation of inflammatory responses. MVK deficiency causes mevalonate kinase deficiency (MKD), a rare monogenic systemic autoinflammatory disorder characterized by disrupted isoprenoid biosynthesis and dysregulated cellular processes 45. MKD represents one of four historical monogenic autoinflammatory diseases, alongside familial Mediterranean fever, cryopyrinopathies, and TNF receptor-associated periodic syndrome 5. Additional disease associations include hyperimmunoglobulinemia D and periodic fever syndrome, and porokeratosis. The clinical significance of MVK lies in understanding autoinflammatory pathogenesis and developing therapeutic strategies targeting the mevalonate pathway for metabolic and immunological diseases. Recent therapeutic advances focus on modulating downstream components of the pathway rather than direct MVK manipulation.