Mevalonic aciduria

Disease ID:624
Name:Mevalonic aciduria
Associated with:1 target
Database Links
Disease Ontology: DOID:0050452
OMIM: 610377
Orphanet: ORPHA29

Targets

mevalonate kinase
References:  5-6
Mutations:  mevalonate kinase is associated with 8 mutation. Click here for details

Ligands

No ligand related data available for Mevalonic aciduria

References

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1. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M, International Hyper-IgD Study Group. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur. J. Hum. Genet., 9 (4): 260-6. [PMID:11313769]

2. D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F et al.. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur. J. Hum. Genet., 13 (3): 314-20. [PMID:15536479]

3. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat. Genet., 22 (2): 178-81. [PMID:10369262]

4. Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, Divry P, Mancini J, Hoffmann GF, Gibson KM. (1999) Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am. J. Hum. Genet., 65 (2): 327-35. [PMID:10417275]

5. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L. (1986) Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N. Engl. J. Med., 314 (25): 1610-4. [PMID:3012338]

6. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics, 91 (5): 915-21. [PMID:8386351]

7. Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT et al.. (2001) Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur. J. Hum. Genet., 9 (4): 253-9. [PMID:11313768]

8. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA et al.. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat. Genet., 22 (2): 175-7. [PMID:10369261]

9. Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ et al.. (1999) Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum. Mol. Genet., 8 (8): 1523-8. [PMID:10401001]

10. Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD. (1992) Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J. Biol. Chem., 267 (19): 13229-38. [PMID:1377680]