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Mevalonate Kinase Deficiency Summary

Description: 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.

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

Networked: 220 relevant articles (6 outcomes, 5 trials/studies) for this Disease

Key Drugs and Agents for Mevalonate Kinase Deficiency

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. autosomal dominant familial Periodic fever : 2 outcomes 1 study in 46 results : IBA
  2. Interleukin-1 (Interleukin 1) : 2 outcomes in 10 results : IBA
  3. Acute-Phase Proteins (Acute-Phase Protein) : 1 outcome 1 study in 2 results : IBA
  4. Immunoglobulin D (IgD) : 1 outcome in 34 results : IBA
  5. Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor) : 1 outcome in 14 results : IBA
  6. Interleukin 1 Receptor Antagonist Protein (Anakinra) : 1 outcome in 9 results : FDA 2
  7. Cytokines : 1 outcome in 5 results : IBA
  8. Tumor Necrosis Factor-alpha (Tumor Necrosis Factor) : 1 outcome in 5 results : IBA
  9. Interleukin-1beta (Interleukin 1 beta) : 1 outcome in 3 results : IBA
  10. C-Reactive Protein : 1 outcome in 2 results : IBA
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Diseases Related to Mevalonate Kinase Deficiency

  1. Familial Mediterranean Fever (Periodic Disease)
  2. Cryopyrin-Associated Periodic Syndromes
  3. Fever (Fevers)
  4. Arthritis (Polyarthritis)
  5. Rare Diseases (Rare Disease)
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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. Hematopoietic Stem Cell Transplantation : 2 results
  4. Transplants (Transplant) : 1 result
  5. Intensive Care (Surgical Intensive Care) : 1 result
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