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https://ghr.nlm.nih.gov/gene/TPMTThiopurine S-methyltransferase deficiency. Changes in the TPMT gene cause TPMT deficiency, which is a reduction in the activity of the TPMT enzyme.
https://labtestsonline.org/tests/thiopurine-methyltransferase-tpmtMay 1, 2017 ... For measuring TPMT enzyme activity (TPMT phenotyping), the test must be performed prior to taking a thiopurine drug since it may affect results; for the genetic test (TPMT genotyping), no specific test preparation is needed.
Thiopurine methyltransferase (TPMT) is an enzyme that ...
www.genecards.org/cgi-bin/carddisp.pl?gene=TPMTComplete information for TPMT gene (Protein Coding), Thiopurine S-
Methyltransferase, including: function, proteins, disorders, pathways, orthologs,
and expression. GeneCards - The Human Gene Compendium.
https://www.uniprot.org/uniprot/P51580Polymorphic variations define TPMT activity levels that are variable among ethnic
groups. 90% of Caucasians have high TPMT activity, 10% have intermediate
activity, and 1 in 300 individuals has low activity (PubMed:10208641). These
differences influence the clinical use and therapeutic efficacy of thiopurine drugs,
www.questdiagnostics.com/testcenter/testguide.action?dc...TPMT...TGNs are responsible for drug efficacy, but when in excess, cause
myelosuppression and gastrointestinal toxicity.1 The level of TGNs produced is
partially dependent on the activity of thiopurine methyltransferase (TPMT), an
enzyme that reduces TGN production. Reduced TPMT activity results in
increased TGN production ...
www.questdiagnostics.com/testcenter/testguide.action?dc...TPMT...These drugs require conversion to thioguanine nucleotides to exert their
therapeutic (cytotoxic) effect; however, that conversion can be blocked by
methylation or oxidation.1 The methylation pathway depends on thiopurine
methyltransferase (TPMT) activity, which varies among individuals: approximately
90% have normal ...
emedicine.medscape.com/article/1829596-overviewOct 21, 2015 ... Approximately 11% of the population has reduced TPMT activity and 0.3% of the
population has true deficiency of TPMT. In these patients, active 6-
mercaptopurine accumulates, and a larger proportion of 6-mercaptopurine is
converted to the cytotoxic 6-thioguanine nucleotide analogues, which can lead to
gut.bmj.com/content/51/2/143.1?utm_source=TrendMD...cpc...Abstract. Azathioprine induced profound myelosuppression linked to TPMT
deficiency has now been documented in many patient groups, including those
with Crohn's disease. At the start of azathioprine or mercaptopurine therapy,
measurement of TPMT activity has a role in identifying the 1 in 300 patients who
are at risk of ...
https://www.mayomedicallaboratories.com/test-catalog/.../65188Detection of individuals with low thiopurine methyltransferase (TPMT) activity
who are at risk for excessive myelosuppression or severe hematopoietic toxicity
when taking thiopurine drugs. Detection of individuals with hyperactive TPMT
activity who have therapeutic resistance to thiopurine drugs and may develop ...
Thiopurine methyltransferase or thiopurine S-methyltransferase is an enzyme that in humans is encoded by the TPMT gene. A pseudogene for this locus is located on chromosome 18q. Wikipedia