mevalonicaciduria

Pathology

• accumulation of mevalonic acid

Genetics

• associated with defects in MVK gene

Clinical manifestations

• psychomotor retardation
• dysmorphic features
• cataracts
• hepatosplenomegaly
• lymphadenopathy
• anemia,
• hypotonia
• myopathy
• ataxia

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis