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- Title
Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance.
- Authors
Yates, C R; Krynetski, E Y; Loennechen, T; Fessing, M Y; Tai, H L; Pui, C H; Relling, M V; Evans, W E
- Abstract
Thiopurine S-methyltransferase (TPMT) catalyzes the S-methylation (that is, inactivation) of mercaptopurine, azathioprine, and thioguanine and exhibits genetic polymorphism. About 10% of patients have intermediate TPMT activity because of heterozygosity, and about 1 in 300 inherit TPMT deficiency as an autosomal recessive trait. If they receive standard doses of thiopurine medications (for example, 75 mg/m2 body surface area per day), TPMT-deficient patients accumulate excessive thioguanine nucleotides in hematopoietic tissues, which leads to severe and possibly fatal myelosuppression.
- Publication
Annals of internal medicine, 1997, Vol 126, Issue 8, p608
- ISSN
0003-4819
- Publication type
Journal Article
- DOI
10.7326/0003-4819-126-8-199704150-00003