Xanthinuria type 1

Common Name(s)

Xanthinuria type 1, Deficiency of xanthine oxidase

Xanthinuria, which was first described by {5:Dent and Philpot (1954)}, is characterized by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. Two clinically similar but distinct forms of xanthinuria are recognized. In type I there is an isolated deficiency of xanthine dehydrogenase, and in type II (XAN2; {603592}) there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase ({603592}). Type I patients can metabolize allopurinol, whereas type II patients cannot ({15:Simmonds et al., 1995}). Xanthinuria also occurs in molybdenum cofactor deficiency ({252150}). Type II xanthinuria is caused by mutation in the MOCOS gene ({613274}), which encodes the enzyme that sulfurates the molybdenum cofactor for XDH and AOX1 ({602841}).
 

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Condition Specific Organizations

Following organizations serve the condition "Xanthinuria type 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Xanthinuria type 1" returned 2 free, full-text research articles on human participants. First 3 results:

A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
 

Author(s): Yutaka Fujiwara, Yoshikazu Kawakami, Yoshihiko Shinohara, Kimiyoshi Ichida

Journal: Intern. Med.. 2012 ;51(14):1879-84.

 

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 ...

Last Updated: 23 Jul 2012

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Two siblings with classical xanthinuria type 1: significance of allopurinol loading test.
 

Author(s): K Ichida, M Yoshida, R Sakuma, T Hosoya

Journal: Intern. Med.. 1998 Jan;37(1):77-82.

 

Two brothers with classical xanthinuria who lacked xanthine dehydrogenase activity were encountered. Their hypouricemia was caused by underproduction of uric acid. In their duodenal mucosa, no xanthine dehydrogenase (oxidase) activity was detected. The patients had no symptoms except ...

Last Updated: 1 Jun 1998

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The terms "Xanthinuria type 1" returned 0 free, full-text review articles on human participants.

 
 
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