ABSTRACT
Mevalonic aciduria was discovered in 1986, the first inborn error in the biosynthesis of cholesterol and nonsterol isoprenoid compounds [1]. It results from a deficiency of the activity of mevalonate kinase (Figures 87.1, 87.2). The disorder is recognized by organic acid analysis of the urine via gas chromatography/mass spectrometry (GCMS). This compound can easily be missed [2].
