Thiopurine S methyltranferase deficiency [Supplementary Concept]

A hereditary autosomal recessive condition that results in an increased sensitivity to 6-MERCAPTOPURINE due to mutations in thiopurine methyltransferase (TPMT gene) causing decreased enzyme activity. OMIM: 187680

Date introduced: August 25, 2010

MeSH Unique ID: C536512

Heading Mapped to:

• Drug Hypersensitivity
• Purine-Pyrimidine Metabolism, Inborn Errors

Entry Terms:

• TPMT deficiency
• Thiopurine methyltransferase deficiency
• Thiopurine S-Methyltransferase Deficiency
• 6 alpha mercaptopurine sensitivity
• Thiopurines, poor metabolism of