Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.
Orotic acid excretion was normal when tested by three methods in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. These results do not support the speculation, based on the oroticaciduria observed by others, that the immunodeficiency in these disorders results from the inhibition of pyrimidine biosynthesis. An alternative hypothesis is discussed.
D000243:Adenosine Deaminase / Q000172:deficiency*; D000328:Adult; D002648:Child; D002852:Chromatography, Ion Exchange; D003124:Colorimetry; D004586:Electrophoresis; D006801:Humans; D009700:Nucleoside Deaminases / Q000172:deficiency*; D009963:Orotic Acid / Q000652:urine*; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*
D009963:Orotic Acid; D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase