Search
mevalonicaciduria
Pathology:
- accumulation of mevalonic acid
Genetics:
- associated with defects in MVK gene
Clinical manifestations:
- psychomotor retardation
- dysmorphic features
- cataracts
- hepatosplenomegaly
- lymphadenopathy
- anemia,
- hypotonia
- myopathy
- ataxia
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
UniProt :accession Q03426