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Deficiency of mevalonate kinase

MedGen UID:
87453
•Concept ID:
C0342731
•
Disease or Syndrome
Synonym: Mevalonate kinase deficiency
SNOMED CT: Mevalonate kinase deficiency (124327008); Deficiency of mevalonate kinase (124327008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Related gene: MVK
 
Monarch Initiative: MONDO:0017708
Orphanet: ORPHA309025

Definition

A rare inborn error of metabolism characterized by a spectrum of presentation ranging from hyperimmunoglobulinemia D with periodic fever (HIDS) to mevalonic aciduria. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Deficiency of mevalonate kinase in Orphanet.

Professional guidelines

PubMed

Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.
Jeyaratnam J, Frenkel J
Front Immunol 2020;11:1150. Epub 2020 Jun 5 doi: 10.3389/fimmu.2020.01150. PMID: 32582214Free PMC Article
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project
Arthritis Rheumatol 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763. PMID: 27213830
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Esposito S, Ascolese B, Senatore L, Bosis S, Verrecchia E, Cantarini L, Rigante D
Int J Immunopathol Pharmacol 2014 Oct-Dec;27(4):491-8. doi: 10.1177/039463201402700404. PMID: 25572728

Recent clinical studies

Etiology

Mevalonate pathway: a review of clinical and therapeutical implications.
Buhaescu I, Izzedine H
Clin Biochem 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31 doi: 10.1016/j.clinbiochem.2007.03.016. PMID: 17467679
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 molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W
Rheumatology (Oxford) 2001 May;40(5):579-84. doi: 10.1093/rheumatology/40.5.579. PMID: 11371670
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
Wanders RJ, Romeijn GJ
Biochem Biophys Res Commun 1998 Jun 29;247(3):663-7. doi: 10.1006/bbrc.1998.8836. PMID: 9647750
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

Diagnosis

Mevalonic aciduria: report of two cases.
Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F
J Inherit Metab Dis 2007 Oct;30(5):829. Epub 2007 Jun 21 doi: 10.1007/s10545-007-0618-7. PMID: 17578678
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 molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W
Rheumatology (Oxford) 2001 May;40(5):579-84. doi: 10.1093/rheumatology/40.5.579. PMID: 11371670
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L
N Engl J Med 1986 Jun 19;314(25):1610-4. doi: 10.1056/NEJM198606193142504. PMID: 3012338

Therapy

The inherited autoinflammatory syndrome: a decade of discovery.
Goldfinger S
Trans Am Clin Climatol Assoc 2009;120:413-8. PMID: 19768193Free PMC Article
Mevalonate pathway: a review of clinical and therapeutical implications.
Buhaescu I, Izzedine H
Clin Biochem 2007 Jun;40(9-10):575-84. Epub 2007 Mar 31 doi: 10.1016/j.clinbiochem.2007.03.016. PMID: 17467679
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

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W
Rheumatology (Oxford) 2001 May;40(5):579-84. doi: 10.1093/rheumatology/40.5.579. PMID: 11371670
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
Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L
N Engl J Med 1986 Jun 19;314(25):1610-4. doi: 10.1056/NEJM198606193142504. PMID: 3012338

Supplemental Content

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    • GTR(Clinical)
      Clinical tests in GTR
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