Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory
disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D …

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 …

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

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

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

Background Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome
caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol …

OBJECTIVES: We aimed to raise awareness among paediatricians and physicians about
this often misunderstood condition. METHODS: We discussed the clinical profiles associated …

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 …

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

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