Mevalonic aciduria | definition of mevalonic aciduria by Medical dictionary
Also found in: Acronyms
mev·a·lon·ic ac·i·du·ri·a (mev'ă-lon'ik as'i-dū'rē-ă),
Elevated levels of mevalonic acid in the urine; associated with a deficiency of mevalonate kinase.
mevalonic aciduria A hereditary condition (OMIM:610377) chemically characterised by increased urinary cholesterol and nonsterol isoprene precursors, including mevalonic acid, and clinically characterised by failure to thrive, retarded development, psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, anaemia, lymphadenopathy, hypotonia, myopathy and ataxia.
Defects of MVK on chromosome 12q24, which encodes mevalonate kinase, causes mevalonic aciduria.
mevalonic aciduria A disease of infant onset characterized by FTT, retarded development, hepatosplenomegaly, anemia, cataracts, dysmorphias, ↑ in urinary cholesterol and nonsterol isoprene precursors including mevalonic acid
References in periodicals archive
Hoffmann, "Mevalonate kinase deficiencies: from mevalonic aciduria
to hyperimmunoglobulinemia D syndrome," Orphanet Journal of Rare Diseases, vol.
(14.) Brucknerova I, Sebova C, Behulova D, Bzduch V, Mach M, Dubovicky M, et al: Mevalonic aciduria
as a cause of conjugated hyperbilirubinaemia in a case of term newborn.
Other compounds may also be quite specific, including 3-hydroxyglutarate for glutaric aciduria type I, mevalonic acid for mevalonic aciduria
, N-acetylaspartate for Canavan disease, 4-hydroxycyclohexylacetate for hawkinsinuria, and 2-ketoadipate and 2-hydroxyadipate for 2-amino/2-ketoadipate aciduria.