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Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria
- Source :
- Clinica Chimica Acta. 188:137-146
- Publication Year :
- 1990
- Publisher :
- Elsevier BV, 1990.
-
Abstract
- Two brothers with hereditary xanthinuria (xanthine oxidase deficiency) and several members of their family were studied. In both subjects, plasma and urinary concentrations of uric acid were low whereas xanthine and hypoxanthine concentrations were markedly elevated. Xanthine oxidase activity was virtually absent in the patients' duodenal mucosa, a finding that established the diagnosis of hereditary xanthinuria. In their parents (obligate heterozygotes), the duodenal xanthine oxidase activity was about 50% of that in control subjects (father 9.3 and mother 12.8 mU/g tissue compared with 21.3 +/- 5.0 mU/g tissue, mean +/- SD). The residual xanthine oxidase from the parents exhibited normal kinetics with respect to hypoxanthine. The parents' urinary xanthine and hypoxanthine concentrations were significantly greater than those of control subjects, while their plasma concentrations of oxypurines were normal. Similar findings were observed in at least 6 other relatives, a finding that suggested that they were heterozygotes. This study suggests that obligate hereditary xanthinuria heterozygotes have only 50% of the xanthine oxidase activity of controls; this deficiency results in a partial metabolic blockage at this enzymatic step in heterozygotes.
- Subjects :
- Adult
Male
Purine
Heterozygote
Purine-Pyrimidine Metabolism, Inborn Errors
Xanthine Oxidase
medicine.medical_specialty
Clinical Biochemistry
Urine
Biology
Biochemistry
chemistry.chemical_compound
Internal medicine
Blood plasma
medicine
Humans
Xanthine oxidase
Hypoxanthine
Oxidase test
Biochemistry (medical)
General Medicine
Xanthine
Pedigree
Uric Acid
Kinetics
Endocrinology
chemistry
Purines
Creatinine
Hypoxanthines
Xanthines
Uric acid
Female
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 188
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....84f9f50aa7f2575b97cef5163be2361c