L. H. Smith Jr., M.D.
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Orotic aciduria is a rare metabolic disease characterized by megaloblastic anemia, resistant to the usual hematinic agents, and the presence of large amounts of urinary orotic acid, a pyrimidine nucleotide precusor. Studies on the surviving siblings and the parents of the propositus of orotic aciduria have demonstrated decreased erythrocyte activities of orotidylic pyrophosphorylase and orotidylic decarboxylase, enzymes which convert orotic acid into uridylic acid. The pattern of inheritance is consistent with that of an autosomal recessive trait. Two Entamoeba coli mutants and a neurospora crassa mutant with somewhat analogous enzyme defects have been studied as examples of "microbiological orotic aciduria."
L. H. Smith. Studies on the Enzymatic Defect of Orotic Aciduria.. Ann Intern Med. 1962;56:678. doi: 10.7326/0003-4819-56-4-678_2
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Published: Ann Intern Med. 1962;56(4):678.
Hematology/Oncology, Red Cell Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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