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Increased circulating hypoxanthine concentration

MedGen UID:
1815082
Concept ID:
C5706176
Finding
Synonym: Hypoxanthine high in blood
 
HPO: HP:0034333

Definition

Elevated concentration of hypoxanthine in the blood circulation. [from HPO]

Term Hierarchy

Conditions with this feature

Xanthinuria type II
MedGen UID:
350953
Concept ID:
C1863688
Disease or Syndrome
Xanthinuria type II (XAN2) is an autosomal recessive inborn error of metabolism resulting from a defect in the synthesis of the molybdenum cofactor, which is necessary for the 2 enzymes that degrade xanthine: XDH (607633) and AOX1 (602841). Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine. Laboratory studies show increased serum and urinary hypoxanthine and xanthine and decreased serum and urinary uric acid (summary by Ichida et al., 2001). Two clinically similar but distinct forms of xanthinuria are recognized. In type I xanthinuria (XAN1; 278300), there is an isolated deficiency of xanthine dehydrogenase resulting from mutation in the XDH gene; in type II, there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995).

Recent clinical studies

Therapy

Estiri M, Estiri B, Fallah A, Aghazadeh M, Sedaqati A, Abdollahi A, Rabienia M, Mortazavidehkordi N, Farjadfar A
Curr Gene Ther 2022;22(5):406-416. doi: 10.2174/1566523222666220405134136. PMID: 35382717
Puskas R, Bikov A, Horvath P, Lazar Z, Kunos L, Nagy R, Pinter G, Galffy G
Pathol Oncol Res 2021;27:631969. Epub 2021 Apr 30 doi: 10.3389/pore.2021.631969. PMID: 34257598Free PMC Article
Beddowes E, Spicer J, Chan PY, Khadeir R, Corbacho JG, Repana D, Steele JP, Schmid P, Szyszko T, Cook G, Diaz M, Feng X, Johnston A, Thomson J, Sheaff M, Wu BW, Bomalaski J, Pacey S, Szlosarek PW
J Clin Oncol 2017 Jun 1;35(16):1778-1785. Epub 2017 Apr 7 doi: 10.1200/JCO.2016.71.3230. PMID: 28388291Free PMC Article
Marotta F, Weksler M, Naito Y, Yoshida C, Yoshioka M, Marandola P
Ann N Y Acad Sci 2006 May;1067:400-7. doi: 10.1196/annals.1354.057. PMID: 16804018
Thomassen A, Nielsen TT, Bagger JP, Pedersen AK, Henningsen P
Am J Cardiol 1991 Aug 1;68(4):291-5. doi: 10.1016/0002-9149(91)90821-2. PMID: 1858669

Prognosis

Puskas R, Bikov A, Horvath P, Lazar Z, Kunos L, Nagy R, Pinter G, Galffy G
Pathol Oncol Res 2021;27:631969. Epub 2021 Apr 30 doi: 10.3389/pore.2021.631969. PMID: 34257598Free PMC Article
Beddowes E, Spicer J, Chan PY, Khadeir R, Corbacho JG, Repana D, Steele JP, Schmid P, Szyszko T, Cook G, Diaz M, Feng X, Johnston A, Thomson J, Sheaff M, Wu BW, Bomalaski J, Pacey S, Szlosarek PW
J Clin Oncol 2017 Jun 1;35(16):1778-1785. Epub 2017 Apr 7 doi: 10.1200/JCO.2016.71.3230. PMID: 28388291Free PMC Article
Schwille PO, Schmiedl A, Wipplinger J
Eur J Med Res 2009 Sep 1;14(9):378-92. doi: 10.1186/2047-783x-14-9-378. PMID: 19748857Free PMC Article
Heiss WD, Dohmen C, Sobesky J, Kracht L, Bosche B, Staub F, Toyota S, Valentino M, Graf R
Acta Neurochir Suppl 2003;86:237-40. doi: 10.1007/978-3-7091-0651-8_51. PMID: 14753443
Manoharan M, Schwille PO
Clin Chem Lab Med 2002 Mar;40(3):266-77. doi: 10.1515/CCLM.2002.043. PMID: 12005217

Clinical prediction guides

Puskas R, Bikov A, Horvath P, Lazar Z, Kunos L, Nagy R, Pinter G, Galffy G
Pathol Oncol Res 2021;27:631969. Epub 2021 Apr 30 doi: 10.3389/pore.2021.631969. PMID: 34257598Free PMC Article
Donaldson AE, Lamont IL
PLoS One 2013;8(11):e82011. Epub 2013 Nov 21 doi: 10.1371/journal.pone.0082011. PMID: 24278469Free PMC Article
Güngör N, Knaapen AM, Munnia A, Peluso M, Haenen GR, Chiu RK, Godschalk RW, van Schooten FJ
Mutagenesis 2010 Mar;25(2):149-54. Epub 2009 Nov 5 doi: 10.1093/mutage/gep053. PMID: 19892774
Godschalk R, Hogervorst J, Albering H, Mercelina-Roumans P, van Schooten FJ, de Haan J, Kleinjans J
Mutagenesis 2005 May;20(3):181-5. Epub 2005 Apr 7 doi: 10.1093/mutage/gei022. PMID: 15817575
Lazzarino G, Raatikainen P, Nuutinen M, Nissinen J, Tavazzi B, Di Pierro D, Giardina B, Peuhkurinen K
Circulation 1994 Jul;90(1):291-7. doi: 10.1161/01.cir.90.1.291. PMID: 8026011

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