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.

Also Known As:

Hyper IgD Syndrome; Hyper-IgD Syndrome; Hyperimmunoglobulinemia D And Periodic Fever Syndrome; Mevalonic Aciduria; Periodic Fever, Dutch Type; Aciduria, Mevalonic; Hyper IgD Syndromes; Hyper-IgD Syndromes; Kinase Deficiencies, Mevalonate; Kinase Deficiency, Mevalonate; Mevalonate Kinase Deficiencies; Mevalonicacidurias; Syndrome, Hyper-IgD; Hyperimmunoglobulinemia D; Mevalonicaciduria

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Mevalonate Kinase Deficiency: 321
Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Blood Protein Disorders: 17
    - Hypergammaglobulinemia: 1300
      - Mevalonate Kinase Deficiency: 321
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Mevalonate Kinase Deficiency: 321
    - Inborn Metabolic Brain Diseases: 2
      - Mevalonate Kinase Deficiency: 321
  - Hereditary Autoinflammatory Diseases: 43
    - Mevalonate Kinase Deficiency: 321
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Peroxisomal Disorders: 509
      - Mevalonate Kinase Deficiency: 321
    - Inborn Metabolic Brain Diseases: 2
      - Mevalonate Kinase Deficiency: 321
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Mevalonate Kinase Deficiency: 321
Immune System Diseases: 4430
- Immunoproliferative Disorders: 29
  - Hypergammaglobulinemia: 1300
    - Mevalonate Kinase Deficiency: 321

Mariëlle E van Gijn Selected Research

Mariëlle E van Gijn Research Topics

Disease

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