Complete deficiency of adenine phosphoribosyl transferase: report of a new family.
We report a case of 2,8-dihydroxyadenine urinary lithiasis with complete deficiency of adenine phosphoribosyl transferase. Adenine phosphoribosyl transferase activities in the erythrocytes, lymphocytes and granulocytes of the patient's family also were determined. The propositus and her younger brother were homozygotes for adenine phosphoribosyl transferase deficiency and her parents were heterozygotes. This is the third family with this disease to be reported.
D000225:Adenine / Q000031:analogs & derivatives; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D014545:Urinary Calculi / Q000201:enzymology / Q000235:genetics*
C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine