Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by
psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febril …

Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia,
recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper …

Objective. To report efficacy and tolerance of interleukin 1 blockade in adult patients with
mevalonate kinase deficiency (MKD). Methods. We retrospectively collected data on 13 …

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 an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

Mevalonate kinase catalyzes the phosphorylation of mevalonic acid to form mevalonate 5-
phosphate, which plays a key role in regulating cholesterol biosynthesis in animal cells …

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the
two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase …

Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD)
caused by recessive inherited mutation in the mevalonate kinase gene …

In the current study our objective was to develop a murine model of human hyper‐IgD
syndrome (HIDS) and severe mevalonic aciduria (MA), autoinflammatory disorders …

cDNA encoding human mevalonate kinase has been overexpressed and the recombinant
enzyme isolated. This stable enzyme is a dimer of 42-kDa subunits and exhibits a V m= 37 …