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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.
Farlex Partner Medical Dictionary © Farlex 2012
mevalonic aciduriaA 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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
mevalonic aciduriaA disease of infant onset characterized by FTT, retarded development, hepatosplenomegaly, anemia, cataracts, dysmorphias, ↑ in urinary cholesterol and nonsterol isoprene precursors including mevalonic acid
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.