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Increased circulating inosine concentration

MedGen UID:
1784908
Concept ID:
C5539526
Finding
HPO: HP:0033339

Definition

An increased concentration of inosine in the blood circulation. [from HPO]

Conditions with this feature

Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).

Recent clinical studies

Etiology

Yoshimura K, Yano I, Yamamoto T, Kawanishi M, Isomoto Y, Yonezawa A, Kondo T, Takaori-Kondo A, Matsubara K
Bone Marrow Transplant 2018 Jan;53(1):44-51. Epub 2017 Oct 9 doi: 10.1038/bmt.2017.213. PMID: 28991252
Pettengill M, Matute JD, Tresenriter M, Hibbert J, Burgner D, Richmond P, Millán JL, Ozonoff A, Strunk T, Currie A, Levy O
PLoS One 2017;12(4):e0175936. Epub 2017 Apr 27 doi: 10.1371/journal.pone.0175936. PMID: 28448526Free PMC Article
Hsiao G, Lin KH, Chang Y, Chen TL, Tzu NH, Chou DS, Sheu JR
Arterioscler Thromb Vasc Biol 2005 Sep;25(9):1998-2004. Epub 2005 Jun 23 doi: 10.1161/01.ATV.0000174798.25085.d6. PMID: 15976325
Aranda JV, Beharry K, Laudignon N, Sasyniuk BI
Dev Pharmacol Ther 1989;13(2-4):96-103. doi: 10.1159/000457590. PMID: 2693008
Zachara B, Zakrzewska I, Maziarz Z, Gaszyński W, Wachowicz N
Haematologia (Budap) 1981;14(3):285-91. PMID: 7327442

Diagnosis

Pettengill M, Matute JD, Tresenriter M, Hibbert J, Burgner D, Richmond P, Millán JL, Ozonoff A, Strunk T, Currie A, Levy O
PLoS One 2017;12(4):e0175936. Epub 2017 Apr 27 doi: 10.1371/journal.pone.0175936. PMID: 28448526Free PMC Article
Kugler G
Circulation 1979 Jan;59(1):43-9. doi: 10.1161/01.cir.59.1.43. PMID: 758123

Therapy

Shimada T, Nakanishi T, Tajima H, Yamazaki M, Yokono R, Takabayashi M, Shimada T, Sawamoto K, Miyamoto K, Kitagawa H, Ohta T, Tamai I, Sai Y
J Pharm Sci 2015 Sep;104(9):3162-9. Epub 2015 Jun 2 doi: 10.1002/jps.24498. PMID: 26037416
Vethe NT, Bremer S, Rootwelt H, Bergan S
Ther Drug Monit 2008 Dec;30(6):647-55. doi: 10.1097/FTD.0b013e31818955c3. PMID: 18806697
Drusano GL, Yuen GJ, Lambert JS, Seidlin M, Dolin R, Valentine FT
Ann Intern Med 1992 Apr 1;116(7):562-6. doi: 10.7326/0003-4819-116-7-562. PMID: 1347442

Clinical prediction guides

Vethe NT, Bremer S, Rootwelt H, Bergan S
Ther Drug Monit 2008 Dec;30(6):647-55. doi: 10.1097/FTD.0b013e31818955c3. PMID: 18806697
Carlucci F, Tabucchi A, Biagioli B, Simeone F, Scolletta S, Rosi F, Marinello E
Biomed Pharmacother 2002 Dec;56(10):483-91. doi: 10.1016/s0753-3322(02)00286-x. PMID: 12504269
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
Greenhaff PL, Söderlund K, Ren JM, Hultman E
J Physiol 1993 Jan;460:443-53. doi: 10.1113/jphysiol.1993.sp019480. PMID: 8487203Free PMC Article
Dancis J, Yip LC, Cox RP, Piomelli S, Balis ME
J Clin Invest 1973 Aug;52(8):2068-74. doi: 10.1172/JCI107391. PMID: 4352580Free PMC Article

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