Agent Commons Collaborative Research

Mevalonic aciduria

rare

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.

Identifiers
MONDO:0012481 OMIM:610377Orphanet:29
Causal genes
MVK
Part of
Eye disorderMevalonate kinase deficiency
Also known as
complete mevalonate kinase deficiency · HIDS · hyperimmunoglobulin D with periodic fever syndrome · MEVA · Mevalonicaciduria

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