reduced results from

133 B

22 M

2 M

277

262

to ~16 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

category genetic or congenital, metabolic, nephrology frequency uncommon (U.S.)

likelihood by age

likelyhood by duration of symptoms

related physician types family practitioner internist postal code Find Local The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.

xanthinuria - inherited enzyme deficiency resulting in increased xanthine levels in blood and kidney stones Definition for xanthinuria Xanthinuria is a rare genetic disorder that causes a deficiency of xanthine oxidase, an enzyme necessary for converting xanthine to uric acid. 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. some common symptoms difficulty urinating in females pain in several joints painful urination in females swollen joint(s) some related diagnoses 1 - 7 of 16 diagnoses tubulointerstitial kidney disease common variable immunodeficiency human immunodeficiency virus infections Crohn Disease inflammatory bowel disease Behcet's disease Reiter's Syndrome   more do i have 'xanthinuria'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'xanthinuria' 1 - 5 of 32 diagnostic tests 24-hour urine xanthine and creatinine xanthinuria and 24-hour urine xanthine and creatinine Urine culture xanthinuria and Urine culture serum hypoxanthine xanthinuria and serum hypoxanthine serum xanthine xanthinuria and serum xanthine urine hypoxanthine xanthinuria and urine hypoxanthine urine xanthine xanthinuria and urine xanthine 24 hour urine calcium the amount of calcium that is excreted from the body xanthinuria and 24 hour urine calcium 24-hour urine oxalate xanthinuria and 24-hour urine oxalate 24-hour urine uric acid xanthinuria and 24-hour urine uric acid Abdominal CAT Scan xanthinuria and Abdominal CAT Scan CT kidneys xanthinuria and CT kidneys Complete metabolic panel xanthinuria and Complete metabolic panel KUB xanthinuria and KUB Plasma uric acid xanthinuria and Plasma uric acid Serum calcium xanthinuria and Serum calcium Serum magnesium xanthinuria and Serum magnesium Serum phosphorus xanthinuria and Serum phosphorus Ultrasonography kidneys ureter bladder xanthinuria and Ultrasonography kidneys ureter bladder Urinalysis Examination of urine to detect disease xanthinuria and Urinalysis Allopurinol challenge measurement of compounds before and after oral allopurinol to diagnose metabolic diseases xanthinuria and Allopurinol challenge Biopsy liver xanthinuria and Biopsy liver Jejunal biopsy xanthinuria and Jejunal biopsy duodenal biopsy xanthinuria and duodenal biopsy Abdominal MRI MRI of abdominal contents xanthinuria and Abdominal MRI BUN xanthinuria and BUN Serum Creatinine xanthinuria and Serum Creatinine Biopsy small bowel xanthinuria and Biopsy small bowel CT scan xanthinuria and CT scan Clean catch urine xanthinuria and Clean catch urine Kidney Stone Analysis xanthinuria and Kidney Stone Analysis Urinary electrolytes xanthinuria and Urinary electrolytes serum electrolytes xanthinuria and serum electrolytes for more please login, login is free (click to login) therapeutic procedures for 'xanthinuria'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for xanthinuria: therapeutic procedure search results for 'xanthinuria' 1 - 5 of 6 therapeutic procedures rankings are computer generated. please consult your health care provider. Low-purine diet xanthinuria and Low-purine diet Extracorporeal shock wave lithotripsy (ESWL) xanthinuria and Extracorporeal shock wave lithotripsy (ESWL) Increasing urinary volume xanthinuria and Increasing urinary volume Lithotripsy xanthinuria and Lithotripsy Nutritional counseling xanthinuria and Nutritional counseling diet modification xanthinuria and diet modification for more please login, login is free (click to login) medications search results for 'xanthinuria' rankings are computer generated. please consult your health care provider. web search results for xanthinuria Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - xanthinuria Xanthinuria - Wikipedia, the free encyclopedia Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic ... Xanthinuria, an inborn error (or deviation) of metabolism" ... http://en.wikipedia.org/wiki/Xanthinuria   en.wikipedia.org - summary Xanthinuria: eMedicine Pediatrics: General Medicine Two inherited forms of xanthinuria principally result from a deficiency of the enzyme xanthine dehydrogenase, which is the enzyme responsible ... http://www.emedicine.com/ped/byname/xanthinuria.htm   www.emedicine.com - summary PubMed Link Image ... cofactor sulfurase gene is responsible for classical xanthinuria type II. ... at codon 419. A classical xanthinuria type I patient and healthy volunteers ... http://www.ncbi.nlm.nih.gov/pubmed/11302742   www.ncbi.nlm.nih.gov - summary XDH - NextBio XDH: Xanthine dehydrogenase belongs to the group of molybdenum-containing ... in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory ... http://www.nextbio.com/b/home/home.nb?q=XDH   www.nextbio.com - summary PMID 14624414 ... molybdenum cofactor sulferase gene that is responsible for xanthinuria type II. ... have not been previously reported for patients with xanthinuria type II. ... http://www.ncbi.nlm.nih.gov/pubmed/14624414   www.ncbi.nlm.nih.gov - summary PMID 17368066 ... Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria. 23-9 Classical xanthinuria type II is an autosomal recessive disorder ... http://www.ncbi.nlm.nih.gov/pubmed/17368066   www.ncbi.nlm.nih.gov - summary PMID 6423323 ... studies on the purine metabolism of four cases with hereditary xanthinuria. ... features may indicate that the four patients have hereditary xanthinuria. ... http://www.ncbi.nlm.nih.gov/pubmed/6423323   www.ncbi.nlm.nih.gov - summary Orphanet: Encyclopaedia for professionals The portal for rare diseases ... 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z. Other ... Xanthinuria. Review article. English (pdf,138ko) ... http://www.orpha.net/consor/cgi-bin/Disease_ProEncyclo_List.php?lng=EN&TAG=X   www.orpha.net - summary OMIM Update List for June, 1996 278300 XANTHINURIA. 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 ... 278300 XANTHINURIA. 600059 RETINITIS PIGMENTOSA-13; RP13 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1996   www.ncbi.nlm.nih.gov - summary PMID 13118765 ... 266 6804 1954 Jan 23 Lancet Xanthinuria, an inborn error (or deviation) of metabolism. 182-5 DENT C E CE PHILPOT G R GR eng Journal Article Not Available Lancet ... http://www.ncbi.nlm.nih.gov/pubmed/13118765   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... Période du résumé: Juillet 2006 - Mots-clés. Généré le 02-Aug-2006 22:11 MEST. Hits Mots-clés -446 1.44% orphanet 319 1.03% vitiligo 185 0.60% brugada syndrome ... http://orphanet.orpha.net/stat/orphanet/search_200607.html   orphanet.orpha.net - summary Xanthinuria http://www.emedicine.com/ped/TOPIC2452.HTM   www.emedicine.com - summary Xanthinuria (search) http://www.nextbio.com/b/home/generalSearch.nb?q=Xanthinuria   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2006 ... Hits Mots-clés -469 1.08% adrenoleucodistrofia 436 1.00% orphanet 427 0.98 ... xanthinuria 4 0.01% 3c syndrome 4 0.01% abcd syndrome 4 0.01% acholic 4 0.01 ... http://www.orpha.net/stat/orphanet/search_200604.html   www.orpha.net - summary AceView: gene:XDH, a comprehensive annotation of human, mouse and worm ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... cause xanthinuria, may contribute ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=XDH   www.ncbi.nlm.nih.gov - summary PMID 7829092 ... of XDH results in hereditary xanthinuria and other disorders in purine metabolism. ... basis for hereditary xanthinuria and other genetic disorders ... http://www.ncbi.nlm.nih.gov/pubmed/7829092   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ... Période du résumé: Mars 2007 - Mots-clés. Généré le 01-Apr-2007 22:46 CEST. Hits Mots-clés -1188 1.57% ectrodactilia 580 0.76% adrenoleucodistrofia 473 0.62 ... http://orphanet.orpha.net/stat/orphanet/search_200703.html   orphanet.orpha.net - summary Classical xanthinuria http://www.nextbio.com/b/home/home.nb?q=Classical+xanthinuria   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Fevrier ... Hits Mots-clés -2064 3.61% maladie de marfan 1002 1.75% anpe ile-de-ré 518 0.91 ... type 2 4 0.01% wpw 4 0.01% xanthinuria 4 0.01% xanthinurie 4 0.01% xantinúria 4 ... http://www.orpha.net/stat/orphanet/search_200702.html   www.orpha.net - summary Discovery Health :: HealthDay :: Clinical Trials Update: May 15, 2007 COPD (Chronic Obstructive Pulmonary Disease) Gout (Hyperuricemia) ... history of xanthinuria or cancer ... http://health.discovery.com/news/healthscout/article.html?ar...   health.discovery.com - summary Hereditary xanthinuria http://www.nextbio.com/b/home/home.nb?q=Hereditary+xanthinuria   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... Période du résumé: Juillet 2007 - Mots-clés. Généré le 01-Aug-2007 22:58 CEST. Hits Mots-clés -389 0.32% orphanet 353 0.29% vitiligo 248 0.21% lupus 239 0.20 ... http://orphanet.orpha.net/stat/orphanet/search_200707.html   orphanet.orpha.net - summary OMIM Update List for February, 1999 603592 XANTHINURIA, TYPE II. Changed Entries: ... 278300 XANTHINURIA, TYPE I. 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1999   www.ncbi.nlm.nih.gov - summary emedicine.com/ped/byname/Xanthinuria.htm http://emedicine.com/ped/byname/Xanthinuria.htm   emedicine.com - summary Hereditary xanthinuria Xanthinuria is a rare autosomal recessive disorder associated with a deficiency in xanthine ... Classical xanthinuria has two types - an ... http://www.orpha.net/data/patho/GB/uk-XDH.pdf   www.orpha.net - summary MIM Gene map The OMIM Gene map presents the cytogenetic map location of disease genes and ... Xanthinuria, type I, 278300 (3) REb, A. 17(Xd) 2p23-p21. MPV17 ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l278300   www.ncbi.nlm.nih.gov - summary Hereditary xanthinuria, NOS http://www.nextbio.com/b/home/home.nb?q=Hereditary+xanthinuria%2C+NOS   www.nextbio.com - summary Discovery Health :: HealthDay :: Clinical Trials Update: June 27, 2007 Diabetes Mellitus, Type 2 Gout (Hyperuricemia) ... history of xanthinuria, active peptic ulcer ... http://health.discovery.com/news/healthscout/article.html?ar...   health.discovery.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ... Période du résumé: Octobre 2007 - Mots-clés. Généré le 01-Nov-2007 22:38 CET. Hits Mots-clés -586 1.23% orphanet 115 0.24% adrenoleucodistrofia 102 0.21 ... http://orphanet.orpha.net/stat/orphanet/search_200710.html   orphanet.orpha.net - summary PMID 7956361 The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22. ... catabolic pathway in man, cause the autosomal recessive disease xanthinuria. ... http://www.ncbi.nlm.nih.gov/pubmed/7956361   www.ncbi.nlm.nih.gov - summary Hereditary tubuloint - Hernia of abdominal Hereditary xanthinuria type 2. Hereditary xanthinuria type 2 (search) DISEASE. Hereditary xanthinuria, NOS. Hereditary xanthinuria, NOS (search) DISEASE ... http://www.nextbio.com/b/sitemap/sitemap.nb?q=disease/a-z//h/H_2596-2656.nb   www.nextbio.com - summary 278300 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278300   www.ncbi.nlm.nih.gov - summary Dihydropyrimidine dehydrogenase deficiency - Wikipedia, the free ... Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal ... deficiency - Purine nucleoside phosphorylase deficiency - Xanthinuria - Gout ... http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency   en.wikipedia.org - summary Orphanet: Xanthinuria The portal for rare diseases and orphan drugs ... Xanthinuria is a rare autosomal recessive disorder associated with a deficiency ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3467   www.orpha.net - summary OMIM Update List for December, 1998 603386 THYROID CARCINOMA, NONMEDULLARY, WITH CELL OXYPHILIA ... 278300 XANTHINURIA. 301870 BIGLYCAN; BGN. 304800 DIABETES INSIPIDUS, NEPHROGENIC ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?12.1998   www.ncbi.nlm.nih.gov - summary MOCOS - Wikipedia, the free encyclopedia ... sulfurase gene is responsible for classical xanthinuria type II.". Biochem. ... (HMCS) associated with type II classical xanthinuria.". Mol. Genet. ... http://en.wikipedia.org/wiki/MOCOS   en.wikipedia.org - summary OMIM Update List for March, 2003 278300 XANTHINURIA, TYPE I. 300192 SARCOMA, SYNOVIAL, X ... 603592 XANTHINURIA, TYPE II. 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2003   www.ncbi.nlm.nih.gov - summary OMIM Update List for March, 2007 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR ... 278300 XANTHINURIA, TYPE I. 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2007   www.ncbi.nlm.nih.gov - summary OMIM Update List for May, 2001 605983 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A. Changed Entries: 136530 ... 278300 XANTHINURIA, TYPE I. 300126 DYSKERIN; DKC1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2001   www.ncbi.nlm.nih.gov - summary Deficiency of xanthine oxidase(Isolated xanthine oxidase deficiency ... XDH gene mutation is the underlying cause of classical xanthinuria: a second report. ... BACKGROUND: Classical xanthinuria is a rare autosomal recessive disorder ... http://www.nextbio.com/b/home/home.nb?q=Isolated+xanthine+ox...   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ... Période du résumé: Aout 2006 - Mots-clés. Généré le 02-Sep-2006 22:12 MEST. Hits Mots-clés -469 1.14% sindrome de klinefelter 353 0.86% vitiligo 350 0.85 ... http://www.orpha.net/stat/orphanet/search_200608.html   www.orpha.net - summary Myoadenylate deaminase deficiency - Wikipedia, the free encyclopedia Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic ... deficiency - Purine nucleoside phosphorylase deficiency - Xanthinuria - Gout ... http://en.wikipedia.org/wiki/Myoadenylate_deaminase_deficiency   en.wikipedia.org - summary OMIM Update List for June, 1998 Mini-MIM for 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 ... 278300 XANTHINURIA. 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1998   www.ncbi.nlm.nih.gov - summary OMIM Update List for July, 1998 106210 PAIRED BOX HOMEOTIC GENE 6; PAX6. 106400 ANKYLOSING VERTEBRAL ... 278300 XANTHINURIA. 300035 EPHRIN B1; EFNB1. 300067 LISSENCEPHALY, X-LINKED ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.1998   www.ncbi.nlm.nih.gov - summary Tophus - NextBio hide studies that are not seeking new volunteers. individual study results ... tophus Unstable angina urate urate oxidase uric acid uricase wrist xanthinuria ... http://www.nextbio.com/b/home/home.nb?q=Tophus&tab=trials   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ... Période du résumé: Janvier 2007 - Mots-clés. Généré le 02-Feb-2007 10:50 CET. Hits Mots-clés -423 0.83% orphanet 308 0.61% ectrodattilia 307 0.60% lupus 149 ... http://www.orpha.net/stat/orphanet/search_200701.html   www.orpha.net - summary Primary Hyperoxaluria Type 2 -- GeneReviews -- NCBI Bookshelf GeneReviews provides information about selected national organizations and ... renal tubular acidosis, cystinuria, xanthinuria, and 2,8 dihydroxyadeninuria. ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph2   www.ncbi.nlm.nih.gov - summary Xanthine - Wikipedia, the free encyclopedia Xanthine. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... with the rare genetic disorder xanthinuria lack sufficient xanthine oxidase and ... http://en.wikipedia.org/wiki/Xanthine   en.wikipedia.org - summary MOSC domains: ancient, predicted sulfur-carrier domains, present in ... Using computational analysis, a novel superfamily of beta-strand ... cofactor-containing enzymes that are compromised in human type II xanthinuria. Mesh Terms: ... http://www.ncbi.nlm.nih.gov/pubmed/11886751   www.ncbi.nlm.nih.gov - summary xanthine oxidase activity - NextBio hide studies that are not seeking new volunteers ... Xanthinuria. FOS gene. Bone marrow stem cell. Allergy to ragweed pollen. Mf59. Vasculature of brain ... http://www.nextbio.com/b/home/home.nb?q=xanthine+oxidase+activity   www.nextbio.com - summary show more 1  2