mevalonic aciduria (DOID:0050452)
Alliance: disease page
Synonyms: Mevalonate Kinase Deficiency
Alt IDs: OMIM:610377, ICD10CM:M04.1, MESH:D054078, NCI:C84890, ORDO:29, UMLS_CUI:C0342731, UMLS_CUI:C0398691, UMLS_CUI:C1959626
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.