Mevalonic aciduria
Mevalonic aciduria
Definition
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Also known as complete mevalonate kinase deficiency, HIDS, hyperimmunoglobulin D with periodic fever syndrome, mevalonic aciduria, MKD, MVA — per MONDO