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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
Pharmacology:
- ITPA deficiency might have pharmacogenomic implications related to increased drug toxicity of purine analog drugs
Genetics:
- associated with defects in ITPA
General
inborn error of metabolism
Database Correlations
OMIM 613850
References
OMIM :accession 613850