Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder
caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase …

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory
metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically …

Objectives: Mevalonate kinase deficiency (MKD), a rare autosomal recessive
autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate …

Mevalonate kinase deficiency (MKD) is a rare inborn error of metabolism caused by
mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging …

Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder
with a spectrum of manifestations, including the well-defined clinical phenotypes of …

Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal
recessive disorders characterized by recurrent episodes of fever and generalized …

Introduction Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory
disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients …

Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by
recurrent inflammatory episodes. This study was undertaken to describe the genotype …

OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of
mevalonate kinase deficiency (MKD). METHODS: This was a retrospective French and …

Autosomal recessive autoinflammatory disorder caused by mutations of the mevalonate
kinase gene (MVK), leading to mild, incomplete MK enzyme deficiency (MKD), has been …