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What is Thiopurine S methyltranferase deficiency?

What is Thiopurine S methyltranferase deficiency?

  • 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.

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

Thiopurine S methyltranferase deficiency: Introduction

Types of Thiopurine S methyltranferase deficiency:

Broader types of Thiopurine S methyltranferase deficiency:

What causes Thiopurine S methyltranferase deficiency?

Causes of Thiopurine S methyltranferase deficiency: see causes of Thiopurine S methyltranferase deficiency

What are the symptoms of Thiopurine S methyltranferase deficiency?

Symptoms of Thiopurine S methyltranferase deficiency: see symptoms of Thiopurine S methyltranferase deficiency

Thiopurine S methyltranferase deficiency: Testing

Diagnostic testing: see tests for Thiopurine S methyltranferase deficiency.

Misdiagnosis: see misdiagnosis and Thiopurine S methyltranferase deficiency.

How is it treated?

Doctors and Medical Specialists for Thiopurine S methyltranferase deficiency: Medical Geneticist ; see also doctors and medical specialists for Thiopurine S methyltranferase deficiency.
Treatments for Thiopurine S methyltranferase deficiency: see treatments for Thiopurine S methyltranferase deficiency

Name and Aliases of Thiopurine S methyltranferase deficiency

Main name of condition: Thiopurine S methyltranferase deficiency

Other names or spellings for Thiopurine S methyltranferase deficiency:

TPMT deficiency, thiopurines, poor metabolism of, Thiopurine methyltransferase deficiency

6-mercaptopurine sensitivity, TPMT deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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