Mutations in MVK, encoding mevalonate kinase
, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
 Nonstandard abbreviations: cfDNA, cell-free DNA; NIPT, noninvasive prenatal testing; SNP, single-nucleotide polymorphism; ddPCR, droplet digital PCR; MAF, minor allele fraction; gDNA, genomic DNA; OTC, ornithine transcarbamylase; MKD, mevalonate kinase deficiency; AChR, acetylcholine receptor.
Lachmann et al., "The phenotype and genotype of mevalonate kinase
deficiency: a series of 114 cases from the Eurofever Registry," Arthritis and Rheumatology, vol.
The hyperimmunoglobulin D syndrome gene has been mapped to the mevalonate kinase
(MVK) gene found on the 12th chromosome (22).
Senatore et al., "Current advances in the understanding and treatment of mevalonate kinase
deficiency," International journal of immunopathology and pharmacology, vol.
(3) In addition, mevalonic acid in urine and serum mevalonate kinase
levels can be used for firm diagnosis of HIDS.
In the CA, some MVAP precursor pools might be controlled by feedback regulation imposed by metabolites such as FPP operating in the downstream portions of the pathway, in a similar mode to the negative feedback of late MVAP precursors (GPP, FPP) on the activity of mevalonate kinase
described for terpene homeostasis in mammals .
Grateau, "A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase
deficiency) in patients with recurrent fever," Journal of Rheumatology, vol.
Also known as hyperimmunoglobulinemia D syndrome, MKD (OMIM 260920) is an autosomal recessive disease caused by mutations in the MVK gene (Table 1), encoding for the enzyme mevalonate kinase
, involved in the ATP-dependent phosphorylation of mevalonic acid into 5-phosphomevalonate.
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase