Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance.

@article{Yates1997MolecularDO,
  title={Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance.},
  author={Charles R Yates and Eugene Y. Krynetski and Thrina Loennechen and Michael Yu. Fessing and Hsiu Ling Tai and Ching-Hon Pui and Mary V. Relling and William E. Evans},
  journal={Annals of internal medicine},
  year={1997},
  volume={126 8},
  pages={608-14}
}
BACKGROUND 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… CONTINUE READING
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