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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.
Also Known As:
Hyper-IgD Syndrome; Mevalonic Aciduria; Periodic Fever, Dutch Type; Aciduria, Mevalonic; Hyper IgD Syndrome; Hyper-IgD Syndromes; Kinase Deficiencies, Mevalonate; Kinase Deficiency, Mevalonate; Mevalonate Kinase Deficiencies; Mevalonicacidurias; Syndrome, Hyper-IgD; Syndromes, Hyper-IgD; Hyperimmunoglobulinemia D; Mevalonicaciduria
Networked: 220 relevant articles (6 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Familial Mediterranean Fever (Periodic Disease)
2. Cryopyrin-Associated Periodic Syndromes
3. Fever (Fevers)
4. Arthritis (Polyarthritis)
5. Rare Diseases (Rare Disease)

Experts

1. Crovella, Sergio: 17 articles (08/2015 - 02/2007)
2. Marcuzzi, Annalisa: 14 articles (10/2015 - 08/2008)
3. Gattorno, Marco: 12 articles (09/2015 - 05/2008)
4. Rigante, Donato: 12 articles (08/2015 - 11/2006)
5. Frenkel, Joost: 11 articles (09/2015 - 10/2002)
6. Waterham, Hans R: 10 articles (10/2008 - 10/2002)
7. Pontillo, Alessandra: 9 articles (09/2011 - 02/2007)
8. Tommasini, Alberto: 8 articles (10/2015 - 02/2007)
9. Cantarini, Luca: 8 articles (09/2015 - 08/2011)
10. Simon, Anna: 8 articles (09/2015 - 05/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mevalonate Kinase Deficiency:
1. autosomal dominant familial Periodic feverIBA
2. Interleukin-1 (Interleukin 1)IBA
3. Acute-Phase Proteins (Acute-Phase Protein)IBA
4. Immunoglobulin D (IgD)IBA
5. Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA
6. Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
7. CytokinesIBA
09/01/2009 - "Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation."
08/01/2015 - "The occurrence of MAS in the natural history or as the revealing clue of monogenic autoinflammatory disorders (AIDs), rare conditions caused by disrupted innate immunity pathways with overblown release of proinflammatory cytokines, has been only reported in few isolated patients with cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, familial Mediterranean fever, and tumor necrosis factor receptor-associated periodic syndrome since 2001. "
07/01/1996 - "Unstimulated peripheral blood mononuclear cells from patients with the hyper-IgD syndrome produce cytokines capable of potent induction of C-reactive protein and serum amyloid A in Hep3B cells."
07/01/2011 - "The farnesyltransferase inhibitors tipifarnib and lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency."
06/15/1995 - "Because this response is considered to be mediated by cytokines, we measured the acute-phase proteins C-reactive protein (CRP) and soluble type-II phospholipase A2 (PLA2) together with circulating concentrations and ex vivo production of the proinflammatory cytokines interleukin-1 alpha (IL-1 alpha), IL-1 beta, IL-6, and tumor necrosis factor alpha (TNF alpha) and the inhibitory compounds IL-1 receptor antagonist (IL-1ra), IL-10, and the soluble TNF receptors p55 (sTNFr p55) and p75 (sTNFr p75) in 22 patients with the hyper-IgD syndrome during attacks and remission. "
8. Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
01/01/2013 - "In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA. "
10/01/2008 - "AIDs include a broad number of monogenic [e.g., familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD), tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS)] and multifactorial (e.g., Behçet's syndrome) disorders. "
12/01/2007 - "They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). "
01/01/2004 - "This new concept includes a broad number of disorders, but the spotlight has been focused for the past two years on periodic fevers (familial Mediterranean fever [FMF]; mevalonate kinase deficiency [MVK]; tumor necrosis factor [TNF] receptor-associated periodic syndrome [TRAPS]; cryopyrin-associated periodic syndrome [CAPS]), Crohn's disease and Blau syndrome, thanks to the recent understanding of their molecular basis. "
06/15/1995 - "Because this response is considered to be mediated by cytokines, we measured the acute-phase proteins C-reactive protein (CRP) and soluble type-II phospholipase A2 (PLA2) together with circulating concentrations and ex vivo production of the proinflammatory cytokines interleukin-1 alpha (IL-1 alpha), IL-1 beta, IL-6, and tumor necrosis factor alpha (TNF alpha) and the inhibitory compounds IL-1 receptor antagonist (IL-1ra), IL-10, and the soluble TNF receptors p55 (sTNFr p55) and p75 (sTNFr p75) in 22 patients with the hyper-IgD syndrome during attacks and remission. "
9. Interleukin-1beta (Interleukin 1 beta)IBA
10. C-Reactive ProteinIBA

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Drug Therapy (Chemotherapy)
3. Hematopoietic Stem Cell Transplantation
4. Transplants (Transplant)
5. Intensive Care (Surgical Intensive Care)