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Hereditary xanthinuria

MedGen UID:: 1830243
•Concept ID:: C5779508
•: Disease or Syndrome

Synonym:	Xanthine oxidase deficiency
SNOMED CT:	Classical xanthinuria (54627004); Hereditary xanthinuria (54627004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	MOCOS, XDH

Monarch Initiative:	MONDO:0018106
OMIM® Phenotypic series:	PS278300
Orphanet:	ORPHA3467

Definition

A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary xanthinuria
- CROGVHereditary xanthinuria type 1
- CROGVXanthinuria type II

Inborn disorder of purine metabolism
- Hereditary xanthinuria
  - Hereditary xanthinuria type 1
  - Xanthinuria type II

Recent clinical studies

Etiology

Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.

Boussetta A, Karray A, Abida N, Jellouli M, Gargah T
Tunis Med 2022 mai;100(5):410-415. PMID: 36206091 Free PMC Article

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Sebesta I, Stiburkova B, Krijt J
Nucleosides Nucleotides Nucleic Acids 2018;37(6):324-328. Epub 2018 May 3 doi: 10.1080/15257770.2018.1460478. PMID: 29723117

Xanthine urolithiasis.

Pais VM Jr, Lowe G, Lallas CD, Preminger GM, Assimos DG
Urology 2006 May;67(5):1084.e9-11. doi: 10.1016/j.urology.2005.10.057. PMID: 16698380

Xanthine calculi in the Lesch-Nyhan syndrome.

Brock WA, Golden J, Kaplan GW
J Urol 1983 Jul;130(1):157-9. doi: 10.1016/s0022-5347(17)51011-3. PMID: 6864903

See all (4)

Diagnosis

Research progress on renal calculus associate with inborn error of metabolism.

Song Y, Zhao C, Li D
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Apr 25;52(2):169-177. doi: 10.3724/zdxbyxb-2022-0698. PMID: 37283101 Free PMC Article

Hereditary xanthinuria is not so rare disorder of purine metabolism.

Sebesta I, Stiburkova B, Krijt J
Nucleosides Nucleotides Nucleic Acids 2018;37(6):324-328. Epub 2018 May 3 doi: 10.1080/15257770.2018.1460478. PMID: 29723117

Modern diagnostic approach to hereditary xanthinuria.

Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B
Urolithiasis 2015 Feb;43(1):61-7. Epub 2014 Nov 6 doi: 10.1007/s00240-014-0734-4. PMID: 25370766

Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.

Ichida K, Amaya Y, Okamoto K, Nishino T
Int J Mol Sci 2012 Nov 21;13(11):15475-95. doi: 10.3390/ijms131115475. PMID: 23203137 Free PMC Article

Xanthine urolithiasis.

Gargah T, Essid A, Labassi A, Hamzaoui M, Lakhoua MR
Saudi J Kidney Dis Transpl 2010 Mar;21(2):328-31. PMID: 20228523

See all (17)

Therapy

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B, Pavelcova K, Petru L, Krijt J
Toxicol Appl Pharmacol 2018 Aug 15;353:102-108. Epub 2018 Jun 20 doi: 10.1016/j.taap.2018.06.015. PMID: 29935280

Xanthine urolithiasis.

Pais VM Jr, Lowe G, Lallas CD, Preminger GM, Assimos DG
Urology 2006 May;67(5):1084.e9-11. doi: 10.1016/j.urology.2005.10.057. PMID: 16698380

Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.

Blau N, de Klerk JB, Thöny B, Heizmann CW, Kierat L, Smeitink JA, Duran M
Biochem Mol Med 1996 Aug;58(2):199-203. doi: 10.1006/bmme.1996.0049. PMID: 8812740

Acute renal failure due to xanthine stones.

Bradbury MG, Henderson M, Brocklebank JT, Simmonds HA
Pediatr Nephrol 1995 Aug;9(4):476-7. doi: 10.1007/BF00866732. PMID: 7577413

Xanthine calculi in the Lesch-Nyhan syndrome.

Brock WA, Golden J, Kaplan GW
J Urol 1983 Jul;130(1):157-9. doi: 10.1016/s0022-5347(17)51011-3. PMID: 6864903

See all (5)

Prognosis

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S21-4. Epub 2010 Jan 14 doi: 10.1007/s10545-009-9011-z. PMID: 20077140

See all (1)

Clinical prediction guides

Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.

Boussetta A, Karray A, Abida N, Jellouli M, Gargah T
Tunis Med 2022 mai;100(5):410-415. PMID: 36206091 Free PMC Article

Modified forearm ischemic test in hypouricemic patients.

Sebesta I, Miyamoto D, Stiburkova B, Blahova S, Sato N, Nagata K, Okamoto K, Tsuruoka S, Ichida K
Nucleosides Nucleotides Nucleic Acids 2020;39(10-12):1432-1439. Epub 2020 Apr 20 doi: 10.1080/15257770.2020.1750636. PMID: 32312155

A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.

Fujiwara Y, Kawakami Y, Shinohara Y, Ichida K
Intern Med 2012;51(14):1879-84. Epub 2012 Jul 15 doi: 10.2169/internalmedicine.51.6891. PMID: 22821105

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

Jurecka A, Stiburkova B, Krijt J, Gradowska W, Tylki-Szymanska A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S21-4. Epub 2010 Jan 14 doi: 10.1007/s10545-009-9011-z. PMID: 20077140

Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria.

Kawachi M, Kono N, Mineo I, Yamada Y, Tarui S
Clin Chim Acta 1990 Apr 30;188(2):137-46. doi: 10.1016/0009-8981(90)90158-o. PMID: 2379312

See all (6)

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Hereditary xanthinuria

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

Clinical resources

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Reviews

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