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what is '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.
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
31
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
serum electrolytes
xanthinuria and serum electrolytes
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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
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medications search results for 'xanthinuria'
rankings are computer generated. please consult your health care provider.
web search results for 'xanthinuria'?
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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summary
Xanthinuria
http://www.emedicine.com/ped/TOPIC2452.HTM
www.emedicine.com
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summary
Xanthinuria (search)
http://www.nextbio.com/b/home/generalSearch.nb?q=Xanthinuria
www.nextbio.com
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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
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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
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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
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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
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summary
Classical xanthinuria
http://www.nextbio.com/b/home/home.nb?q=Classical+xanthinuria
www.nextbio.com
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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
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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
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summary
Hereditary xanthinuria
http://www.nextbio.com/b/home/home.nb?q=Hereditary+xanthinuria
www.nextbio.com
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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
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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
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summary
emedicine.com/ped/byname/
Xanthinuria
.htm
http://emedicine.com/ped/byname/Xanthinuria.htm
emedicine.com
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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
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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
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summary
Hereditary xanthinuria, NOS
http://www.nextbio.com/b/home/home.nb?q=Hereditary+xanthinuria%2C+NOS
www.nextbio.com
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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
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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
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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
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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
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summary
278300
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278300
www.ncbi.nlm.nih.gov
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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summary
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quick facts
category
genetic or congenital
metabolic
nephrology
frequency
uncommon (U.S.)
likelihood by age
likelyhood by duration of symptoms
some common symptoms
difficulty urinating in females
pain in several joints
painful urination in females
swollen joint(s)
some related diagnoses
common variable immunodeficiency
tubulointerstitial kidney disease
gout
renal osteodystrophy
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