mevalonic aciduria

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 cho

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.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Elevated urine mevalonic acid level
• Failure to thrive in infancy
• Short stature
• Hypotonia
• Ataxia
• Cataract
• Attenuation of retinal blood vessels
• Global developmental delay
• Increased total leukocyte count

Medications that may treat it

canakinumab

Also known as: Mevalonate Kinase Deficiency