ORPHA:760
Purine nucleoside phosphorylase deficiency
Also called PNP deficiency, PNPase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Childhood, Infancy
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:760 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormal T cell morphology
- Decreased urinary urate
- Abnormality of the nervous system
- Autoimmune hemolytic anemia
- Recurrent respiratory infections
- Recurrent infections