キサンチン尿症、キサンチン尿
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/10/18 04:31:34」(JST)
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Xanthinuria |
Xanthine
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Classification and external resources |
Specialty |
endocrinology |
ICD-10 |
E79.8 |
ICD-9-CM |
277.2 |
OMIM |
278300 603592 |
DiseasesDB |
14194 29821 |
eMedicine |
ped/2452 |
[edit on Wikidata]
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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]
Contents
- 1 Causes
- 2 Presentation
- 3 Treatment
- 4 References
- 5 External links
Causes
Type I xanthinuria can be caused by a deficiency of xanthine dehydrogenase, which is an enzyme necessary for converting xanthine to uric acid.[2] Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase.[3]
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
- ^ Dent CE, Philpot GR (1954). "Xanthinuria, an inborn error (or deviation) of metabolism". Lancet. 266 (6804): 182–5. doi:10.1016/S0140-6736(54)91257-X. PMID 13118765.
- ^ 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. doi:10.1172/JCI119421. PMC 508078. PMID 9153281.
- ^ Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O. "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria". J Clin Invest. 99(10):2391-7. PMID 9153281
- 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
Inborn error of purine-pyrimidine metabolism (E79, 277.2)
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Purine metabolism |
Anabolism
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- Adenylosuccinate lyase deficiency
- Adenosine Monophosphate Deaminase Deficiency type 1
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Nucleotide salvage
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- Lesch-Nyhan syndrome/Hyperuricemia
- Adenine phosphoribosyltransferase deficiency
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Catabolism
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- Adenosine deaminase deficiency
- Purine nucleoside phosphorylase deficiency
- Xanthinuria
- Gout
- Mitochondrial neurogastrointestinal encephalopathy syndrome
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Pyrimidine metabolism |
Anabolism
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- Orotic aciduria
- Miller syndrome
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Catabolism
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- Dihydropyrimidine dehydrogenase deficiency
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UpToDate Contents
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English Journal
- Randomized, allopurinol-controlled trial of the effects of dietary nucleotides and active hexose correlated compound in the treatment of canine leishmaniosis.
- Segarra S1, Miró G2, Montoya A3, Pardo-Marín L4, Boqué N5, Ferrer L6, Cerón J7.
- Veterinary parasitology.Vet Parasitol.2017 May 30;239:50-56. doi: 10.1016/j.vetpar.2017.04.014. Epub 2017 Apr 23.
- PMID 28495197
- A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.
- Murgiano L1, Jagannathan V1, Piffer C2, Diez-Prieto I3, Bolcato M4, Gentile A4, Drögemüller C5.
- BMC veterinary research.BMC Vet Res.2016 Dec 5;12(1):276.
- PMID 27919260
- A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.
- Iguchi A1, Sato T2, Yamazaki M2, Tasaki K2, Suzuki Y2, Iino N3, Hasegawa H4, Ichida K4, Narita I5.
- CEN case reports.CEN Case Rep.2016 Nov;5(2):158-162. doi: 10.1007/s13730-016-0216-3. Epub 2016 Mar 3.
- PMID 28508967
Japanese Journal
- A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi
- , , ,
- Internal Medicine 51(14), 1879-1884, 2012
- … Hereditary xanthinuria is an extremely rare purine metabolism disorder caused by a genetic abnormality in xanthine dehydrogenase. … A new case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi was encountered. … We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria. …
- NAID 130002062228
- Xanthine Nephrolithiasis in a Galician Blond Beef Calf
- , , [他], , , , ,
- Journal of Veterinary Medical Science 72(7), 921-923, 2010
- … In cattle, xanthinuria has only been described in the Japanese Black breed, but never before in other breeds. … Clinical history suggested a naturally occurring xanthinuria. …
- NAID 130000264278
- Human Xanthine Oxidase Changes its Substrate Specificity to Aldehyde Oxidase Type upon Mutation of Amino Acid Residues in the Active Site : Roles of Active Site Residues in Binding and Activation of Purine Substrate
- Yamaguchi Yuichiro,Matsumura Tomohiro,Ichida Kimiyoshi [他],OKAMOTO Ken,NISHINO Takeshi
- The journal of biochemistry 141(4), 513-524, 2007-04-01
- NAID 10020100078
Related Links
- Xanthinuria is a descriptive term for excess urinary excretion of the purine base xanthine. Two inherited forms of xanthinuria principally result from a deficiency of the enzyme xanthine dehydrogenase, which is the enzyme ...
- 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. The excess ...
- Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation and classical xanthinuria. A ten-month-old boy presented with a seven-month history of nausea, vomiting, discomfort during urination, gross ...
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