Xanthinuria: Difference between revisions

Xanthinuria
Xanthinuria
	Xanthine
Specialty	Endocrinology

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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]

Presentation

Affected people 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.^{[citation needed]}

Causes

Type I xanthinuria can be caused by a deficiency of xanthine oxidase, 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]

Diagnosis

Treatment

There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine.^{[citation needed]}

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 (May 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

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

Xanthinuria at NIH's Office of Rare Diseases

[1] 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.

[pmid9153281-2] 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. doi:10.1172/JCI119421. PMC 508078. PMID 9153281.

[3] Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O (May 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.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
-{{Infobox medical condition |
+{{Infobox medical condition (new)
-  Name           = Xanthinuria |
+| name            =
-  ICD10          = {{ICD10|E|79|8|e|70}} |
+| image           = Xanthin - Xanthine.svg
-  ICD9           = {{ICD9|277.2}} |
+| caption         = [[Xanthine]]
-  ICDO           = |
+| pronounce       =
-  Image          = Xanthin - Xanthine.svg |
+| field           =
-  Caption        = [[Xanthine]] |
+| synonyms        =
-  OMIM           = 278300 |
+| symptoms        =
+| complications   =
-  OMIM_mult      = {{OMIM2|603592}} |
-  MedlinePlus    = |
+| onset           =
+| duration        =
-  eMedicineSubj  = ped |
+| types           =
-  eMedicineTopic = 2452 |
-  DiseasesDB     = 14194 |
+| causes          =
+| risks           =
-  DiseasesDB_mult = {{DiseasesDB2|29821}} |
-  MeshName       = |
+| diagnosis       =
-  MeshNumber     = |
+| differential    =
+| prevention      =
+| treatment       =
+| medication      =
+| prognosis       =
+| frequency       =
+| deaths          =
 }}
 '''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.<ref>{{cite journal
+It was first formally characterized in 1954.<ref>{{cite journal|vauthors=Dent CE, Philpot GR | title = Xanthinuria, an inborn error (or deviation) of metabolism| journal = [[The Lancet|Lancet]]| year = 1954| volume = 266| issue = 6804| pages= 182–5 |pmid=13118765 | doi =10.1016/S0140-6736(54)91257-X }}</ref>
-|vauthors=Dent CE, Philpot GR | title = Xanthinuria, an inborn error (or deviation) of metabolism
-| journal = [[The Lancet|Lancet]]
-| year = 1954
-| volume = 266
-| issue = 6804
-| pages= 182–5 |pmid=13118765
-| doi =10.1016/S0140-6736(54)91257-X }}</ref>
-==Causes==
-Type I xanthinuria can be caused by a deficiency of [[xanthine dehydrogenase]], which is an enzyme necessary for converting [[xanthine]] to [[uric acid]].<ref name="pmid9153281">{{cite journal |vauthors=Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O |title=Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria |journal=[[J. Clin. Invest.]] |volume=99 |issue=10 |pages=2391–7 |year=1997 |pmid=9153281 |pmc=508078 |doi=10.1172/JCI119421}}</ref> Type II xanthinuria and [[molybdenum cofactor deficiency]] lack one or two other enzyme activities in addition to xanthine oxidase.<ref>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}}</ref>
 ==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.
+Affected people 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.{{cn|date=October 2024}}
+==Causes==
+Type I xanthinuria can be caused by a deficiency of [[xanthine oxidase]], which is an enzyme necessary for converting [[xanthine]] to [[uric acid]].<ref name="pmid9153281">{{cite journal |vauthors=Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O |title=Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria |journal=[[J. Clin. Invest.]] |volume=99 |issue=10 |pages=2391–7 |year=1997 |pmid=9153281 |pmc=508078 |doi=10.1172/JCI119421}}</ref> Type II xanthinuria and [[molybdenum cofactor deficiency]] lack one or two other enzyme activities in addition to xanthine oxidase.<ref>{{cite journal | author = Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O | title = Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria | journal = J Clin Invest | volume = 99 | issue = 10| pages = 2391–7 | pmid = 9153281 | doi = 10.1172/JCI119421 | pmc = 508078 | date = May 1997 }}</ref>
+==Diagnosis==
+{{Empty section|date=October 2024}}
 ==Treatment==
-There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in [[purine]].
+There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in [[purine]].{{cn|date=October 2024}}
 ==References==
 {{reflist}}
 {{refbegin}}
+* {{cite journal|author1=Kojima T. |author2=Nishina T. |author3=Kitamura M. |author4=Hosoya T. |author5=Nishioka K. | title = Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria| journal= Clin Chim Acta| year= 1984| volume = 137| issue = 2| pages= 189–98| pmid = 6423323| doi = 10.1016/0009-8981(84)90179-7}}
-*{{cite journal
+* {{cite journal| author = Hille R.| title = Structure and Function of Xanthine Oxidoreductase| journal= [[European Journal of Inorganic Chemistry]]| year = 2006| volume = 2006| issue = 10| pages= 1905–2095| doi = 10.1002/ejic.200600087}}{{refend}}
-|author1=Kojima T. |author2=Nishina T. |author3=Kitamura M. |author4=Hosoya T. |author5=Nishioka K. | title = Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria
-| journal= Clin Chim Acta
-| year= 1984
-| volume = 137
-| issue = 2
-| pages= 189–98
-| pmid = 6423323
-| doi = 10.1016/0009-8981(84)90179-7}}
+== External links ==
-*{{cite journal
+{{Medical resources
-| author = Hille R.
+| ICD10           = {{ICD10|E|79|8|e|70}}
-| title = Structure and Function of Xanthine Oxidoreductase
+| ICD9            = {{ICD9|277.2}}
-| journal= [[European Journal of Inorganic Chemistry]]
+| ICDO            =
-| year = 2006
+| OMIM            = 278300
-| volume = 2006
+| OMIM_mult       = {{OMIM|603592||none}}
-| issue = 10
+| MedlinePlus     =
-| pages= 1905–2095
+| eMedicineSubj   = ped
-| doi = 10.1002/ejic.200600087}}{{refend}}
+| eMedicineTopic  = 2452
+| DiseasesDB      = 14194
-==External links==
+| SNOMED CT       = 190919008
-*{{RareDiseases|5621|Xanthinuria}}
+}}
+* {{RareDiseases|5621|Xanthinuria}}
 {{Purine, pyrimidine, porphyrin, bilirubin metabolic pathology}}

Classification	D ICD-10: E79.8 ICD-9-CM: 277.2 OMIM: 278300 603592 MeSH: C566358, C566358, C562584 C562584, C566358, C566358, C562584 DiseasesDB: 14194 SNOMED CT: 190919008
External resources	eMedicine: ped/2452