thiopurine S-methyltransferase deficiency

MeSH: C536512ORPHA: 3315

Overview

inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C536512

Orphanet Code

ORPHA:3315
thiopurine S-methyltransferase deficiency
MeSHC536512
OrphanetORPHA:3315
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
thiopurine S-methyltransferase deficiency | OrphanDrug