Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol

Reiter, Sebastian; Simmonds, H. Anne; Zöllner, N.; Braun, S; Knedel, M.

doi:10.1016/0009-8981(90)90107-4

Cited by 76 publications

(42 citation statements)

References 33 publications

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“…The current classification of this inherited disorder is rather complicated. In classical xanthinuria type I, only xanthine dehydrogenase activity is lacking, while in classical xanthinuria type II, aldehyde oxidase activity is also deficient (2,3). More complicated still is the presence of molybdenum cofactor deficiency, in which sulfite oxidase activity is missing as well as the above two enzymes (4).…”

Section: Introductionmentioning

confidence: 99%

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

Ichida¹,

Amaya²,

Kamatani³

et al. 1997

J. Clin. Invest.

137

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Hereditary xanthinuria is classified into three categories. Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities. In the present study, we examined four individuals with classical xanthinuria to discover the cause of the enzyme deficiency at the molecular level. One subject had a C to T base substitution at nucleotide 682 that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 228. The duodenal mucosa from the subject had no xanthine dehydrogenase protein while the mRNA level was not reduced. The two subjects who were siblings with type I xanthinuria were homozygous concerning this mutation, while another subject was found to contain the same mutation in a heterozygous state. The last subject who was also with type I xanthinuria had a deletion of C at nucleotide 2567 in cDNA that should generate a termination codon from nucleotide 2783. This subject was homozygous for the mutation and the level of mRNA in the duodenal mucosa from the subject was not reduced. Thus, in three subjects with type I xanthinuria, the primary genetic defects were confirmed to be in the xanthine dehydrogenase gene.

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Section: Introductionmentioning

confidence: 99%

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

Ichida¹,

Amaya²,

Kamatani³

et al. 1997

J. Clin. Invest.

137

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“…Classical xanthinuria has recently been classified into two subtypes (4,5). Type 1 lacks only xanthine dehydrogenase activity and is characterized by hypouricemia accompanying xanthine dehydrogenase deficiency, while type 2 lacks both xanthine dehydrogenase and aldehyde oxidase activity.…”

Section: Introductionmentioning

confidence: 99%

A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi

et al. 2012

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Hereditary xanthinuria is an extremely rare purine metabolism disorder caused by a genetic abnormality in xanthine dehydrogenase. A new case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi was encountered. We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria. Through genetic diagnosis, we identified a mutation site in the xanthine dehydrogenase gene. Genetic analysis revealed a homozygous deletion of cytosine 2,567 in the xanthine dehydrogenase gene, and as a result, a stop codon was formed at position 928. Renal failure caused by the deposition of xanthine crystals is a known complication because xanthine is poorly soluble in water. With high fluid intake and low purine diet, no significant increase in calculi has been observed in this patient for 2 years.

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“…Accordingly, obvious detection of oxipurinol indicates that a patient does not suffer from classical type 2 xanthinuria in the allopurinol loading test, though the result of the allopurinol loading test only was obtained for the patients with classical type 1 xanthinuria, not patients with classical type 2 xanthinuria in this report. In most allopurinol loading tests conducted in patients with classical xanthinuria which were reported, 600-800 mg of allopurinol was administered and the oxidation to oxipurinol was confirmed with measurement of urinary oxipurinol 4-24 hours after administration (6,7). Allopurinol has various influences on metabolism such as the inhibition of orolidine-5f-pho sphate decarboxylase , orotatepho sphoribo syltransferase , and phosphoribosyl pyrophosphate amidotransferase and rarely causes allopurinol hypersensitivity syndrome, including Stevens-Johnson syndrome and Lyell syndrome, and bone marrow suppression due to the toxicity of oxipurinol, especially in patients with renal insufficiency (18)(19)(20)(21)(22)(23)(24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

“…Recently, classical xanthinuria was classified into the following two types (7): type 1, a deficiency of xanthine dehydrogenase alone and type 2, deficiencies of xanthine dehydrogenase and aldehyde oxidase. Since both xanthine dehydrogenase and aldehyde oxidase metabolize allopurinol, a xanthine dehydrogenase inhibitor, to oxipurinol, types 1 and 2 are differentiated by administering allopurinol and measuring oxipurinol in the serum or urine (7). In the present paper, two brothers with classical type 1 xanthinuria are reported and the allopurinol loading test was conducted to determine the optimal examination times and specimens required for this test.…”

Section: Introductionmentioning

confidence: 99%

Two Siblings with Classical Xanthinuria Type 1: Significance of Allopurinol Loading Test.

et al. 1998

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Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol

Cited by 76 publications

References 33 publications

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi

Two Siblings with Classical Xanthinuria Type 1: Significance of Allopurinol Loading Test.

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