Mevalonic aciduria

MONDO:0012481

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: HIDS, MKD, MVA, complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, mevalonic aciduria, MEVA, Mevalonicaciduria

88 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Sort by