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Thiopurine S methyltranferase deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
Thiopurine S methyltranferase deficiency
Unique ID
C536512
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536512
Entry Term(s)
6 alpha mercaptopurine sensitivity
TPMT deficiency
Thiopurine S-Methyltransferase Deficiency
Thiopurine methyltransferase deficiency
Thiopurines, poor metabolism of
Registry Numbers
0
Heading Mapped to
*Drug Hypersensitivity
*Purine-Pyrimidine Metabolism, Inborn Errors
Frequency
32
Note
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
Source
Clin Pharm Ther 1989; 46:149
Date of Entry
2010/08/25
Revision Date
2015/11/10
Thiopurine S methyltranferase deficiency Preferred
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