Mevalonate Kinase Deficiency

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Is a:
  • Disease or Syndrome
  • Cell or Molecular Dysfunction
Definition:
An inborn error in cholesterol biosynthesis pathway resulting in the accumulation of mevalonic acid and characterized by a range of symptoms that may include dysmorphic facies, psychomotor retardation, cataract, hepatosplenomegaly, cerebellar ataxia, elevated immunoglobulin d, and recurrent febrile crises with fever; lymphadenopathy; arthralgia; edema; and rash.
Synonyms:
  • Aciduria, Mevalonic
  • Hyper IgD Syndrome
  • Hyper-IgD Syndrome
  • Hyper-IgD Syndromes
  • Hyperimmunoglobulinemia D
  • Kinase Deficiencies, Mevalonate
  • Kinase Deficiency, Mevalonate
  • Mevalonate Kinase Deficiencies
  • Mevalonic Aciduria
  • Periodic Fever, Dutch Type
  • Syndrome, Hyper-IgD
  • Syndromes, Hyper-IgD
Broader Topics:
Narrower Topics:
  • None
Possibly Related Topics:
  • List of topics based on word similarity