Mevalonate kinase deficiency - Wikipedia
Mevalonate kinase deficiency (MKD) is an autosomal recessive [2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. [3] It is a rare genetic disorder, but a high frequency is observed in Northern European regions.
Mevalonate Kinase Deficiency - Symptoms, Causes, Treatment
2021年9月9日 · Learn about Mevalonate Kinase Deficiency, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find Patients & Caregivers
Mevalonate kinase deficiency | About the Disease | GARD
Mevalonate kinase deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Mevalonate kinase deficiency - MedlinePlus
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Explore symptoms, inheritance, genetics of this condition.
Mevalonate Kinase Deficiency: Symptoms, Causes, Treatments
2023年1月13日 · Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition that causes recurrent episodes of fever. It typically begins in childhood, resulting from inherited MVK gene mutations. The severity of symptoms can vary for each person with mevalonate kinase deficiency (MKD).
Mevalonate kinase deficiency: current perspectives - PubMed
2016年7月20日 · Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria.
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years.
Mevalonate kinase deficiency: an updated clinical overview and …
2024年11月12日 · Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies.
Frontiers | Mevalonate kinase deficiency: an updated clinical …
2024年11月12日 · Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies.
Management of Mevalonate Kinase Deficiency: A Pediatric …
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. This clinically manifests itself as fever and can be accompanied by gastrointestinal symptoms, oral …