New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency.
2,8-Dihydroxyadenine lithiasis is rare. One case, the methods to establish the diagnosis by high performance liquid chromatography and the treatment are described.
Jung
P
P
Urologic Clinic, University of Saarland, Homburg/Saar, FRG.
Becht
E
E
Ziegler
M
M
Bommert
R
R
Bach
K
K
Haas
H J
HJ
D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000293:Adolescent; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000032:analysis* / Q000175:diagnosis / Q000628:therapy; D010430:Pentosyltransferases / Q000172:deficiency*
C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine