Mevalonic acid<unk>  (MKD), is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a very rare genetic disease. It is characterized by an elevated level of immunoglobulin D in the blood.<unk><unk>  (MVK) is an enzyme involved in biosynthesis of cholesterols and isoprenoids and is necessary for the conversion of<unk>  to<unk> -5-phosphate in the presence of Mg2+. MKD is due to a mutation in the gene that encodes<unk><unk>  which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine. The severity of MKD depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and mevalonic aciduria (MVA); a more severe, but rarer form.
Mevalonate kinase deficiency
Guanidinoacetate methyltransferase deficiency
Aminoacylase 1 deficiency
2,4 Dienoyl-CoA reductase deficiency
Triosephosphate isomerase deficiency
Malonyl-CoA decarboxylase deficiency
Holocarboxylase synthetase deficiency
Carbamoyl phosphate synthetase I deficiency