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Xu, C. Hereditary Xanthinuria. Encyclopedia. Available online: https://encyclopedia.pub/entry/4073 (accessed on 27 September 2026).
Xu C. Hereditary Xanthinuria. Encyclopedia. Available at: https://encyclopedia.pub/entry/4073. Accessed September 27, 2026.
Xu, Camila. "Hereditary Xanthinuria" Encyclopedia, https://encyclopedia.pub/entry/4073 (accessed September 27, 2026).
Xu, C. (2020, December 23). Hereditary Xanthinuria. In Encyclopedia. https://encyclopedia.pub/entry/4073
Xu, Camila. "Hereditary Xanthinuria." Encyclopedia. Web. 23 December, 2020.
Hereditary Xanthinuria
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-xanthinuria

Hereditary xanthinuria is a condition that most often affects the kidneys. It is characterized by high levels of a compound called xanthine and very low levels of another compound called uric acid in the blood and urine.

genetic conditions

References

  1. Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O. Identification oftwo mutations in human xanthine dehydrogenase gene responsible for classical typeI xanthinuria. J Clin Invest. 1997 May 15;99(10):2391-7.
  2. Ichida K, Amaya Y, Okamoto K, Nishino T. Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans. Int JMol Sci. 2012 Nov 21;13(11):15475-95. doi: 10.3390/ijms131115475. Review.
  3. Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T. Mutation of humanmolybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun. 2001 Apr 20;282(5):1194-200.
  4. Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B.Modern diagnostic approach to hereditary xanthinuria. Urolithiasis. 2015Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 876
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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