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  2. Thiopurine S-methyltransferase deficiency (TPMT deficiency)

Thiopurine S-methyltransferase deficiency (TPMT deficiency)

Definition:

Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine.

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