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.

Descriptor ID	D054078
MeSH Number(s)	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
Concept/Terms	Mevalonate Kinase Deficiency Mevalonate Kinase Deficiency Kinase Deficiencies, Mevalonate Kinase Deficiency, Mevalonate Mevalonate Kinase Deficiencies Mevalonic Aciduria Mevalonic Aciduria Aciduria, Mevalonic Mevalonicaciduria Mevalonicacidurias Hyperimmunoglobulinemia D Hyperimmunoglobulinemia D Hyper IgD Syndrome Hyper IgD Syndromes Periodic Fever, Dutch Type Hyper-IgD Syndrome Hyper-IgD Syndromes Syndrome, Hyper-IgD Hyperimmunoglobulinemia D And Periodic Fever Syndrome

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