The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes
HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the MVK gene …

Mevalonate kinase deficiency (MKD) is caused by mutations in a key enzyme of the
mevalonate–cholesterol biosynthesis pathway, leading to recurrent autoinflammatory …

Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

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

Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder
associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic …

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 …

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

Objective Bi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase
(MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory …

Objective Mevalonate kinase deficiency (MKD) is an autosomal‐recessive disorder
characterized by recurring episodes of inflammation. MK catalyzes the phosphorylation of …

Background In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in two
subsequent enzyme steps by mevalonate kinase (MVK) and phosphomevalonate kinase …