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Mevalonate Kinase Deficiency Summary

114 relevant articles (3 outcomes, 1 trials/studies) found for this Disease

Description: 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.

Also Known As: Hyper-IgD Syndrome; Mevalonic Aciduria; Periodic Fever, Dutch Type; Aciduria, Mevalonic; Hyper IgD Syndrome Show All >>

Key Drugs and Agents for Mevalonate Kinase Deficiency

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Acute-Phase Proteins (Acute-Phase Protein) : 1 outcome 1 study in 2 results : IBA
  2. Immunoglobulin D (IgD) : 1 outcome in 23 results : IBA
  3. Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor) : 1 outcome in 22 results : IBA
  4. Tumor Necrosis Factor-alpha (Tumor Necrosis Factor) : 1 outcome in 3 results : IBA
  5. Interleukin-1beta (Interleukin 1 beta) : 1 outcome in 2 results : IBA
  6. Cytokines : 1 outcome in 2 results : IBA
  7. Interleukin-1 (Interleukin 1) : 1 outcome in 2 results : IBA
  8. C-Reactive Protein : 1 outcome in 2 results : IBA
  9. Phospholipases A2 (Phospholipase A2) : 1 outcome in 1 result : IBA
  10. Interleukin-1alpha (Interleukin 1 alpha) : 1 outcome in 1 result : IBA
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Diseases Related to Mevalonate Kinase Deficiency

  1. Syndrome
  2. Fever (Fevers)
  3. Mevalonate Kinase Deficiency
  4. Familial Mediterranean Fever (Periodic Disease)
  5. Arthritis (Polyarthritis)
Show All >>

Key Therapies for Mevalonate Kinase Deficiency

Efficacy Chart >>
  1. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 1 outcome in 2 results
  2. Drug Therapy (Chemotherapy) : 1 outcome in 1 result
  3. Intensive Care (Surgical Intensive Care) : 1 result

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