KEGG   DISEASE: H00206Help
Entry
H00206                      Disease                                

Name
Mevalonate kinase deficiency;
Hyperimmunoglobulinemia D;
Mevalonic aciduria
Description
Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.
Category
Inherited metabolic disease; Immune system disease
BRITE hierarchy
Pathway
hsa00900 Terpenoid backbone biosynthesis  
 
Gene
MVK; mevalonate kinase [HSA:4598] [KO:K00869]
Marker
Mevalonic acid [CPD:C00418]
Drug
Anakinra [DR:D02934] (HIDS)
Simvastatin [DR:D00434] (HIDS)
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Buhaescu I, Izzedine H
  Title
Mevalonate pathway: a review of clinical and therapeutical implications.
  Journal
Clin Biochem 40:575-84 (2007)
Reference
  Authors
Mandey SH, Schneiders MS, Koster J, Waterham HR
  Title
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
  Journal
Hum Mutat 27:796-802 (2006)
Reference
  Authors
Haas D, Hoffmann GF
  Title
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
  Journal
Orphanet J Rare Dis 1:13 (2006)
Reference
  Authors
Houten SM, Frenkel J, Waterham HR
  Title
Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation.
  Journal
Cell Mol Life Sci 60:1118-34 (2003)
Reference
  Authors
Houten SM, Wanders RJ, Waterham HR
  Title
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
  Journal
Biochim Biophys Acta 1529:19-32 (2000)
Reference
  Authors
Hogenboom S, Romeijn GJ, Houten SM, Baes M, Wanders RJ, Waterham HR
  Title
Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis.
  Journal
J Lipid Res 43:90-8 (2002)
Reference
PMID:19768193 (HIDS)
  Authors
Goldfinger S
  Title
The inherited autoinflammatory syndrome: a decade of discovery.
  Journal
Trans Am Clin Climatol Assoc 120:413-8 (2009)
Reference
PMID:17473510 (drug)
  Authors
Naruto T
  Title
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]
  Journal
Nihon Rinsho Meneki Gakkai Kaishi 30:86-9 (2007)
Reference
PMID:20020131 (drug)
  Authors
Shendi HM, Walsh D, Edgar JD
  Title
Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome.
  Journal
Rheumatol Int (2009)

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