THIOPURINE METHYLTRANSFERASE DEFICIENCY

Question 1

What is  THIOPURINE METHYLTRANSFERASE DEFICIENCY?

Accepted Answer

very rare

autosomal recessive

mutation in the TPMT gene

decreased metabolism of thiopurine drugs

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 610460

Question 3

Which enzymes are involved?

Accepted Answer

Thiopurine S-methyltransferase

Disease	THIOPURINE METHYLTRANSFERASE DEFICIENCY
Synonym	THIOPURINES, POOR METABOLISM OF, 1; THPM1
OMIM	610460 OMIM = Online Mendelian Inheritance of Men
Orphanet	613687
Protein (UniProt)	Thiopurine S-methyltransferase
ExPASy	2.1.1.67
Gene locus	6p22.3
ICD
Summary	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