Thiopurine S methyltranferase deficiency: A rare enzyme deficiency which is generally asymptomatic but can cause problems when certain anti-cancer or immunosuppressant drugs are used (e.g. 6-mercaptopurine, 6-thioguanine, azathioprine). The body is unable to metabolize these drugs which leads to a toxic buildup which can ultimately lead to reduced blood production by the bone marrow. More detailed information about the symptoms, causes, and treatments of Thiopurine S methyltranferase deficiency is available below.
See full list of 7 symptoms of Thiopurine S methyltranferase deficiency
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Thiopurine S methyltranferase deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Thiopurine S methyltranferase deficiency, or a subtype of Thiopurine S methyltranferase deficiency,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Thiopurine S methyltranferase deficiency as a "rare disease".
Source - Orphanet
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