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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., 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

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