oroticaciduria

oroticaciduria
orot·ic·ac·i·du·ria (ə-rot″ik-as″ĭ-duґre-ə) 1. excess of orotic acid in the urine. 2. an autosomal recessive defect of pyrimidine metabolism due to deficiency of orotate phosphoribosyltransferase (OPRT) or orotidine-5′-phosphate decarboxylase (ODC), two activities contained on the single multifunctional enzyme UMP synthase, which is encoded by the UMPS gene (locus: 3q13). Manifestations include crystalluria and excessive excretion of orotic acid in the urine, megaloblastic anemia with hypochromic, microcytic circulating erythrocytes, and physical and mental growth retardation. There are two biochemical types: type I is due to deficiency of both OPRT and ODC activities; type II is due to deficiency of ODC activity only.

Medical dictionary. 2011.

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