Thiopurine S methyltranferase deficiency
Other Names for this Disease
- TPMT deficiency
- Thiopurines, poor metabolism of
- Thiopurine methyltransferase deficiency
- 6-mercaptopurine sensitivity
- Thiopurine S-methyltransferase deficiency
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The National Institutes of Health Clinical Pharmacogenomics Implementation Consortium isssued recommendations on how to manage patients with TPMT deficiency. They recommend that patients with one TPMT gene change reduce thiopurine doses by about 30-70%. Patients with two TPMT gene changes should reduce thiopurine doses by at least 10-fold. The frequency of doses should also be reduced from daily to three times per week.
Last updated: 8/29/2012
- Relling MV, Gardner EE, Sandborn WJ et al. Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther. March 2011; 3:387-391. http://www.ncbi.nlm.nih.gov/pubmed/21270794. Accessed 8/29/2012.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.