Pronunciation: or-ot'ik as'i-dyu're-a
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]
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