mevalonate kinase deficiency

Mevalonate kinase deficiency (MKD), is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.It is characterized by an elevated level of immunoglobin D in the blood.

Mevalonate kinase (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes mevalonate kinase which results in a reduced ...