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Reduced erythrocyte inosine triphosphatase activity

MedGen UID:
1052363
•Concept ID:
CN377342
•
Finding
HPO: HP:6000511

Definition

Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte inosine triphosphatase activity

Professional guidelines

PubMed

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

Recent clinical studies

Etiology

Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients.
Xiong H, Xin HW, Wu XC, Li Q, Xiong L, Yu AR
Fundam Clin Pharmacol 2010 Jun;24(3):393-400. Epub 2009 Aug 13 doi: 10.1111/j.1472-8206.2009.00770.x. PMID: 19682085

Therapy

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients.
Xiong H, Xin HW, Wu XC, Li Q, Xiong L, Yu AR
Fundam Clin Pharmacol 2010 Jun;24(3):393-400. Epub 2009 Aug 13 doi: 10.1111/j.1472-8206.2009.00770.x. PMID: 19682085
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

Clinical prediction guides

Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.
Tanaka Y, Inoue A, Mizunuma T, Matsumura H, Yokomori H, Komiyama T, Otori K
Ther Drug Monit 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626. PMID: 30817703
Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.
Atanasova S, Shipkova M, Svinarov D, Mladenova A, Genova M, Wieland E, Oellerich M, von Ahsen N
Ther Drug Monit 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554. PMID: 17304144

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