Thiopurine Methyltransferase Deficiency

**Semantic type:** Laboratory or Test Result

**Definition:** An autosomal recessive condition caused by mutation(s) in the TPMT gene, encoding thiopurine S-methyltransferase. This condition may result in severe hematopoietic toxicity in those undergoing chemotherapeutic treatment using purine analogues for hematologic malignancies.

**Synonyms:** - TPMT Deficiency