a hereditary defect of pyrimidine metabolism associated with excessive urinary excretion of orotic acid, and characterized by megaloblastic anemia, crystalluria, and frequently physical and mental retardation.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
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