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.

Sep 9, 2021 · 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 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 is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Explore symptoms, inheritance, genetics of this condition.

Nov 12, 2024 · 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, diagnost …

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 (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.

Jul 20, 2016 · 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.

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 …

Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. In this review we discuss its pathogenesis, clinical presentation and treatment.