Mevalonic aciduria (Q97697)

Mevalonic aciduria (MVA) and hyperimmunoglobulinaemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. MVA is characterised by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises with hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as intellectual deficit, ataxia, ocular symptoms and epilepsy.