- 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.