Thiopurine S-methyltransferase deficiency
Thiopurine S-methyltransferase deficiency
Definition
An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
Also known as inborn error of thiopurine S-methyltransferase activity, inborn thiopurine S-methyltransferase activity disorder, poor metabolism of thiopurines-1, rare inborn error of thiopurine S-methyltransferase activity, thiopurine S-methyltransferase deficiency, TPMT deficiency — per MONDO