Term Name:	mevalonic aciduria
Synonyms:	Mevalonate Kinase Deficiency
Definition:	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.
Ontology:	Human Disease [DOID:0050452]   ( DOID:0050452 )