Mevalonate Kinase Deficiency

**Definition:** Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.

**Tree numbers:** - C10.228.140.163.100.593 - C15.378.147.542.319 - C16.320.382.750 - C16.320.565.189.593 - C16.320.565.663.430 - C18.452.132.100.593 - C18.452.648.189.593 - C18.452.648.663.430 - C20.683.460.319