_:vb50936856 . _:vb50936856 . _:vb50936856 . _:vb50936856 . _:vb50936856 "url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria"^^ . _:vb50936856 . _:vb50936856 "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis."^^ .