[The total absence of xanthine oxidase activity. Apropos 2 cases of the nonfamilial incidence of xanthinuria].
The lack of activity of the xanthine-oxidase conversion produces hypouricemia and hypocuria, with high urine elimination of xanthine and hypoxanthine. Due to the low solubility, it can result in urinary lithiasis. Two rare cases of xanthinuria caused by total lack of xanthine-oxidase are presented. A differential diagnosis of several congenital metabolic purine defects was carried out.
Sastre Pascual
J F
JF
Servicios de Medicina Interna, Hospital SVS Virgen de los Lirios de Alcoy, Cátedra de Fisiología, Facultad de Biología.
Roca Villanueva
B
B
Arenas Jiménez
M D
MD
Mengual Alarte
M J
MJ
Zamora Navarro
S
S
Boronat Botella
M
M
Arenas Adarve
M
M
D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007042:Hypoxanthines / Q000032:analysis; D008297:Male; D008875:Middle Aged; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D014527:Uric Acid / Q000032:analysis; D014969:Xanthine Oxidase / Q000172:deficiency*; D014970:Xanthines / Q000652:urine*
D007042:Hypoxanthines; D014970:Xanthines; D014527:Uric Acid; D014969:Xanthine Oxidase
Ausencia total de actividad de la xantino-oxidasa. A propósito de dos casos de incidencia no familiar de xantinuria.