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Diseases

Genetic and Rare Diseases Information Center (GARD)

Thiopurine S methyltranferase deficiency


Other Names for this Disease
  • TPMT deficiency
  • Thiopurines, poor metabolism of
  • Thiopurine methyltransferase deficiency
  • 6-mercaptopurine sensitivity
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Treatment

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How might an individual with thiopurine S-methyltransferase deficiency be treated?

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.[1]
Last updated: 8/29/2012

References
  1. 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.


GARD Video Tutorial

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Clinical Trials & Research for this Disease

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • TPMT deficiency
  • Thiopurines, poor metabolism of
  • Thiopurine methyltransferase deficiency
  • 6-mercaptopurine sensitivity
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.