orotic aciduria(redirected from uridine monophosphate synthase deficiency)
o·rot·ic ac·i·du·ri·a(ōr-ot'ik as'i-dyu'rē-ă), [MIM*258900]
A rare disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance, caused by mutation in the uridine monophosphatate synthase gene (MMPS) on 3q13.
[orotic acid + G. ouron, urine]
a rare autosomal-recessive inherited disorder of pyrimidine metabolism. It includes signs and symptoms of macrocytic hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of large amounts of orotic acid.
orotic aciduriaA rare autosomal recessive disorder (OMIM:258900) of pyrimidine metabolism characterised by megaloblastic anaemia and orotic acid crystalluria, often associated with physical and mental retardation and, in some cases, congenital malformations and immune defects.
Hypochromic anaemia with megaloblastic changes in bone marrow, decreased WBCs, increased orotic acid in urine.
Caused by defects of UMPS, which encodes uridine monophosphate synthetase, a bifunctional enzyme that catalyses the last two steps of pyrimidine synthesis.
the excretion of acid in the urine. See also specific forms, such as aminoaciduria, orotic aciduria.
appearance of orotic acid, an intermediate of pyrimidine synthesis, in the urine due to a lack of orotate phosphoribosyltransferase activity.
occurs when a metabolic alkalosis caused by severe vomiting or pooling of gastric secretions in the abomasum leads to renal bicarbonate reabsorption and sodium-hydrogen exchange with the inappropriate production of acid urine.