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THIOPURINE METHYLTRANSFERASE DEFICIENCY

THIOPURINE METHYLTRANSFERASE DEFICIENCY
THIOPURINES, POOR METABOLISM OF, 1; THPM1
610460
OMIM = Online Mendelian Inheritance of Men
613687
Thiopurine S-methyltransferase
2.1.1.67
6p22.3
very rare
autosomal recessive
mutation in the TPMT gene
decreased metabolism of thiopurine drugs
Laboratory findings    no specific laboratory findings (P, S, U ,CSF) ()
Symptoms    bone marrow abnormality
    liver involvement or dysfunction
    no clinical symptoms (probably)
    onset, adolescent
    onset, childhood
    pancytopenia