Mevalonate kinase deficiency
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Hyper-IgD syndrome?
Summarize this article for a 10 year old
Mevalonate kinase deficiency (MKD) is an autosomal recessive[2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[3] It is a very rare genetic disease.
This article needs editing to comply with Wikipedia's Manual of Style. In particular, it has problems with not using MEDMOS (there seems to be a section that may need its own separate article/Hyper-IgD syndrome. (October 2021) |
Mevalonate kinase deficiency | |
---|---|
Other names | Mevalonic aciduria[1] and Hyper immunoglobulin D syndrome (HIDS) |
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features | |
Specialty | Hematology, neurology, immunology, medical genetics, endocrinology |
It is characterized by an elevated level of immunoglobulin D in the blood. Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine. The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form.