Xanthinuria

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

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Overview

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.

Causes

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

Presentation

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.

Treatment

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

References

• 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. doi:10.1016/0009-8981(84)90179-7. PMID 6423323.

• Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase". European Journal of Inorganic Chemistry 2006 (10): 1905–2095. doi:10.1002/ejic.200600087.

External links

• 644546576 at GPnotebook
• Xanthinuria at NIH's Office of Rare Diseases

Cost Effectiveness of Xanthinuria

| group5 = Clinical Trials Involving Xanthinuria | list5 = Ongoing Trials on Xanthinuria at Clinical Trials.gov • Trial results on Xanthinuria • Clinical Trials on Xanthinuria at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Xanthinuria | list6 = US National Guidelines Clearinghouse on Xanthinuria • NICE Guidance on Xanthinuria • NHS PRODIGY Guidance • FDA on Xanthinuria • CDC on Xanthinuria

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

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

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

| group10 = Newstories on Xanthinuria | list10 = Xanthinuria in the news • Be alerted to news on Xanthinuria • News trends on Xanthinuria</small>

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

| group12 = Patient Resources on Xanthinuria | list12 = Patient resources on Xanthinuria • Discussion groups on Xanthinuria • Patient Handouts on Xanthinuria • Directions to Hospitals Treating Xanthinuria • Risk calculators and risk factors for Xanthinuria

| group13 = Healthcare Provider Resources on Xanthinuria | list13 = Symptoms of Xanthinuria • Causes & Risk Factors for Xanthinuria • Diagnostic studies for Xanthinuria • Treatment of Xanthinuria

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

| group15 = International Resources on Xanthinuria | list15 = Xanthinuria en Espanol • Xanthinuria en Francais

| group16 = Business Resources on Xanthinuria | list16 = Xanthinuria in the Marketplace • Patents on Xanthinuria

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

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