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 rare autosomal recessive autoinflammatory
metabolic disease that is caused by mutations in the MVK gene. Patients with MKD typically …

Mevalonate kinase deficiency is caused by mutations in the mevalonic kinase (MVK) gene
and is associated with a spectrum of systemic disease ranging from severe (mevalonic …

Objective. Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error
of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation …

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 inborn error of
metabolism with an autoinflammatory phenotype that may be expressed as a spectrum of …

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 …

Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome
(HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of …

Objective Mevalonate kinase (MVK) deficiency is a rare autosomal recessive auto-
inflammatory disorder characterised by recurring episodes of fever associated with multiple …

Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due
to recessively inherited, loss-of-function MVK mutations. MA is an early-onset disorder …