Mevalonate Kinase Deficiency
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.
Year introduced: 2008
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Tree 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
MeSH Unique ID: D054078
Entry Terms:
- Kinase Deficiencies, Mevalonate
- Kinase Deficiency, Mevalonate
- Mevalonate Kinase Deficiencies
- Mevalonic Aciduria
- Aciduria, Mevalonic
- Mevalonicaciduria
- Mevalonicacidurias
- Hyperimmunoglobulinemia D
- Hyper-IgD Syndrome
- Hyper-IgD Syndromes
- Syndrome, Hyper-IgD
- Hyperimmunoglobulinemia D And Periodic Fever Syndrome
- Periodic Fever, Dutch Type
- Hyper IgD Syndrome
- Hyper IgD Syndromes