mevalonicaciduria

mevalonicaciduria
me·va·lon·ic·ac·id·uria (mev-ə-lon″ik-as″ĭ-duґre-ə) an autosomal recessive aminoacidopathy caused by mutation in the MVK gene (locus: 12q24), which encodes mevalonate kinase; the resulting deficiency of the enzyme is characterized by excessive urinary excretion of mevalonic acid, with variable clinical symptoms including developmental delay, hypotonia, hepatosplenomegaly, and failure to thrive.

Medical dictionary. 2011.

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  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

  • mevalonic acid — Precursor of squalene, steroids, terpenes, and dolichol. * * * mev·a·lon·ic acid .mev ə .län ik n a branched dihydroxy acid C6H12O4 that is a precursor of squalene in the biosynthetic pathway forming sterols (as cholesterol) * * * mev·a·lon·ic… …   Medical dictionary

  • mevalonate kinase — me·val·o·nate ki·nase (mə valґo nāt kiґnās) [EC 2.7.1.36] an enzyme of the transferase class that catalyzes the ATP dependent phosphorylation of mevalonate as a step in the biosynthesis of cholesterol and other isoprenoids.… …   Medical dictionary

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