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Reduced mevalonate kinase activity

MedGen UID:
1772736
•Concept ID:
C5421656
•
Finding
HPO: HP:0033168

Definition

Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced mevalonate kinase activity

Recent clinical studies

Etiology

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
Omoyinmi E, Rowczenio D, Sebire N, Brogan PA, Eleftheriou D
Pediatr Rheumatol Online J 2021 Nov 22;19(1):161. doi: 10.1186/s12969-021-00645-8. PMID: 34809655Free PMC Article
Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.
Zhu T, Tian D, Zhang L, Xu X, Xia K, Hu Z, Xiong Z, Tan J
Br J Dermatol 2019 Aug;181(2):304-313. Epub 2019 Mar 18 doi: 10.1111/bjd.17596. PMID: 30597534
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
Santos MMS, Elsztein C, De Souza RB, Paiva SSL Jr, Silva JA, Crovella S, De Morais MA Jr
Curr Genet 2018 Aug;64(4):871-881. Epub 2018 Jan 27 doi: 10.1007/s00294-018-0803-2. PMID: 29374778
Evolutionary hypothesis of the Mevalonate Kinase Deficiency.
Vuch J, Marcuzzi A, Bianco AM, Tommasini A, Zanin V, Crovella S
Med Hypotheses 2013 Jan;80(1):67-9. Epub 2012 Nov 17 doi: 10.1016/j.mehy.2012.10.016. PMID: 23168296
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Haas D, Hoffmann GF
Orphanet J Rare Dis 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. PMID: 16722536Free PMC Article

Diagnosis

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
Omoyinmi E, Rowczenio D, Sebire N, Brogan PA, Eleftheriou D
Pediatr Rheumatol Online J 2021 Nov 22;19(1):161. doi: 10.1186/s12969-021-00645-8. PMID: 34809655Free PMC Article
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.
Jurczyluk J, Munoz MA, Skinner OP, Chai RC, Ali N, Palendira U, Quinn JM, Preston A, Tangye SG, Brown AJ, Argent E, Ziegler JB, Mehr S, Rogers MJ
Immunol Cell Biol 2016 Nov;94(10):994-999. Epub 2016 Jul 5 doi: 10.1038/icb.2016.58. PMID: 27377765Free PMC Article
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Haas D, Hoffmann GF
Orphanet J Rare Dis 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. PMID: 16722536Free PMC Article
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT
Nat Genet 1999 Jun;22(2):175-7. doi: 10.1038/9691. PMID: 10369261

Therapy

Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signaling Pathway.
Muller AL, Freed DH
Curr Mol Pharmacol 2017;10(1):6-12. doi: 10.2174/1874467209666160112125805. PMID: 26758946
Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study.
Tricarico PM, Kleiner G, Piscianz E, Zanin V, Monasta L, Crovella S, Marcuzzi A
Biomed Res Int 2013;2013:715465. Epub 2013 Sep 1 doi: 10.1155/2013/715465. PMID: 24073415Free PMC Article
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Haas D, Hoffmann GF
Orphanet J Rare Dis 2006 Apr 26;1:13. doi: 10.1186/1750-1172-1-13. PMID: 16722536Free PMC Article
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K
Pediatrics 1993 May;91(5):915-21. PMID: 8386351

Clinical prediction guides

PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR.
Romeo MA, Gilardini Montani MS, Benedetti R, Garufi A, D'Orazi G, Cirone M
Biomolecules 2020 Apr 10;10(4) doi: 10.3390/biom10040586. PMID: 32290231Free PMC Article
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
Santos MMS, Elsztein C, De Souza RB, Paiva SSL Jr, Silva JA, Crovella S, De Morais MA Jr
Curr Genet 2018 Aug;64(4):871-881. Epub 2018 Jan 27 doi: 10.1007/s00294-018-0803-2. PMID: 29374778
Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signaling Pathway.
Muller AL, Freed DH
Curr Mol Pharmacol 2017;10(1):6-12. doi: 10.2174/1874467209666160112125805. PMID: 26758946
Farnesyl-diphosphate synthase is localized in peroxisomes.
Krisans SK, Ericsson J, Edwards PA, Keller GA
J Biol Chem 1994 May 13;269(19):14165-9. PMID: 8188698
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K
Pediatrics 1993 May;91(5):915-21. PMID: 8386351

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