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.
Also Known As:
Hyper IgD Syndrome; Hyper-IgD Syndrome; Hyperimmunoglobulinemia D And Periodic Fever Syndrome; Mevalonic Aciduria; Periodic Fever, Dutch Type; Aciduria, Mevalonic; Hyper IgD Syndromes; Hyper-IgD Syndromes; Kinase Deficiencies, Mevalonate; Kinase Deficiency, Mevalonate; Mevalonate Kinase Deficiencies; Mevalonicacidurias; Syndrome, Hyper-IgD; Hyperimmunoglobulinemia D; Mevalonicaciduria