Thiopurine S-methyltransferase deficiency | definition of thiopurine S-methyltransferase deficiency by Medical dictionary
thiopurine S-methyltransferase deficiency
thiopurine S-methyltransferase deficiency A condition (OMIM:610460) caused by a lack of TPMT, an enzyme involved in the normal metabolic inactivation of thiopurine drugs used as immunosupressants or cytotoxic drugs for leukemia, autoimmune disease and organ transplantation. Patients with low or no TPMT activity are at risk of toxicity at standard doses of thiopurine drugs; inter-individual differences in response to thiopurines are largely determined by genetic variation at the TPMT locus.
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References in periodicals archive
Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency
with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study.
For the article entitled "Association of Inosine Triphosphate 94C>A and Thiopurine S-Methyltransferase Deficiency
with Adverse Events and Study Drop-Outs under Azathioprine Therapy in a Prospective Crohn Disease Study", by N.
Thiopurine S-methyltransferase deficiency
: two nucleotide transition define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians.