<unk>  causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme<unk><unk>  (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).<unk>  pathway The disorder was first described in 1985. Classified as an inborn error of metabolism,<unk>  usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.<unk>  has an autosomal recessive pattern of inheritance.
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