inosine triphosphate pyrophosphohydrolase deficiency; ITP pyrophosphohydrolase deficiency; ITPA deficiency

Epidemiology

• common

Pathology

• abnormal accumulation of inosine triphosphate (ITP) in erythrocytes, leukocytes & fibroblasts
• consequences of ITPA deficiency, if any, are unknown

Genetics

• associated with defects in ITPA

Pharmacology

• ITPA deficiency might have pharmacogenomic implications related to increased drug toxicity of purine analog drugs

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/613850