ABSTRACT
Failure to thrive; diarrhea and malabsorption; psychomotor impairment; dysmorphic features, cataracts; retinal dystrophy; hypotonia; hepatosplenomegaly and lymphadenopathy; ataxia; recurrent crises of fever, arthralgia and skin eruption; hyperimmunoglobulin D (IgD); mevalonic aciduria; and defective activity of mevalonic acid kinase.
