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[Hereditary xanthinuria. A clinical case report].

Authors :
Pessano B
Davì S
La Brocca A
Leone L
Source :
Minerva medica [Minerva Med] 1989 May; Vol. 80 (5), pp. 507-9.
Publication Year :
1989

Abstract

A case of hereditary xanthinuria in a 68-year-old man with congestive heart failure and alcoholic liver disease is presented. Urolithiasis and muscular symptoms were absent, and the metabolic error was revealed by hypouricemia, hypouricosuria and excess of xanthine and hypoxanthine excretion in urine. Xanthine oxidase (EC 1.2.3.2) activity in liver tissue was absent, confirming the diagnosis of xanthinuria.

Subjects

Subjects :
Aged
Biopsy, Needle
Heart Failure metabolism
Heart Failure pathology
Humans
Hypoxanthines analysis
Liver enzymology
Liver pathology
Liver Diseases, Alcoholic metabolism
Liver Diseases, Alcoholic pathology
Male
Purine-Pyrimidine Metabolism, Inborn Errors pathology
Uric Acid analysis
Xanthine Oxidase deficiency
Purine-Pyrimidine Metabolism, Inborn Errors metabolism
Xanthines urine

Details

Language :
Italian
ISSN :
0026-4806
Volume :
80
Issue :
5
Database :
MEDLINE
Journal :
Minerva medica
Publication Type :
Academic Journal
Accession number :
2747979

Tools

Authors Abstract Subjects Details