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ICD-10 E79.8
ICD-9 277.2
OMIM 278300 603592
DiseasesDB 14194 29821
eMedicine ped/2452 

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Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

It was first formally characterized in 1954.[1]


It can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. [2]


Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones.


There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.


  1. Dent CE, Philpot GR (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". Lancet. 266 (6804): 182–5. PMID 13118765. doi:10.1016/S0140-6736(54)91257-X. 
  2. Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O (1997). "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J. Clin. Invest. 99 (10): 2391–7. PMC 508078Freely accessible. PMID 9153281. doi:10.1172/JCI119421. 
  • Kojima T., Nishina T., Kitamura M., Hosoya T., Nishioka K. (1984). "Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria". Clin Chim Acta. 137 (2): 189–98. PMID 6423323. doi:10.1016/0009-8981(84)90179-7. 

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| group5 = Clinical Trials Involving Xanthinuria | list5 = Ongoing Trials on Xanthinuria at Clinical Trials.govTrial results on XanthinuriaClinical Trials on Xanthinuria at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Xanthinuria | list6 = US National Guidelines Clearinghouse on XanthinuriaNICE Guidance on XanthinuriaNHS PRODIGY GuidanceFDA on XanthinuriaCDC on Xanthinuria

| group7 = Textbook Information on Xanthinuria | list7 = Books and Textbook Information on Xanthinuria

| group8 = Pharmacology Resources on Xanthinuria | list8 = AND (Dose)}} Dosing of XanthinuriaAND (drug interactions)}} Drug interactions with XanthinuriaAND (side effects)}} Side effects of XanthinuriaAND (Allergy)}} Allergic reactions to XanthinuriaAND (overdose)}} Overdose information on XanthinuriaAND (carcinogenicity)}} Carcinogenicity information on XanthinuriaAND (pregnancy)}} Xanthinuria in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Xanthinuria

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Xanthinuria | list9 = AND (pharmacogenomics)}} Genetics of XanthinuriaAND (pharmacogenomics)}} Pharmacogenomics of XanthinuriaAND (proteomics)}} Proteomics of Xanthinuria

| group10 = Newstories on Xanthinuria | list10 = Xanthinuria in the newsBe alerted to news on XanthinuriaNews trends on Xanthinuria</small>

| group11 = Commentary on Xanthinuria | list11 = Blogs on Xanthinuria

| group12 = Patient Resources on Xanthinuria | list12 = Patient resources on XanthinuriaDiscussion groups on XanthinuriaPatient Handouts on XanthinuriaDirections to Hospitals Treating XanthinuriaRisk calculators and risk factors for Xanthinuria

| group13 = Healthcare Provider Resources on Xanthinuria | list13 = Symptoms of XanthinuriaCauses & Risk Factors for XanthinuriaDiagnostic studies for XanthinuriaTreatment of Xanthinuria

| group14 = Continuing Medical Education (CME) Programs on Xanthinuria | list14 = CME Programs on Xanthinuria

| group15 = International Resources on Xanthinuria | list15 = Xanthinuria en EspanolXanthinuria en Francais

| group16 = Business Resources on Xanthinuria | list16 = Xanthinuria in the MarketplacePatents on Xanthinuria

| group17 = Informatics Resources on Xanthinuria | list17 = List of terms related to Xanthinuria