Absence of Immune Deficiency in Hereditary Orotic Aciduria

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Abstract
To the Editor: In the March 24, 1983, issue Girot and colleagues1 describe two siblings with hereditary orotic aciduria and immune deficiency. They suggested that there was a relation between defects of the enzymes orotate phosphoribosyltransferase (OPRT) and orotidine-5′-phosphate decarboxylase (ODC) and the immune deficiency, and that immune deficiency may be one feature of hereditary orotic aciduria that does not remit during uridine therapy. The findings in other cases with deficiencies of OPRT and ODC cast doubt on these conclusions.A 21-year-old man appears to be the longest-surviving patient with hereditary orotic aciduria.2 He has been treated with uridine from . . .