Purine nucleoside phosphorylase deficiency

external

• Synonyms

  • PNPase

• Causes

  • PNP gene mutation

• Effects

  • Defective T-cell function
  • Mental retardation
  • Growth retardation
  • Cerebellar ataxia
  • Low plasma urate

• Parents

  • Congenital immunodeficiency
  • Disease due to genetic mutation
  • Autosomal recessive congenital metabolic disease

• Description

  • "PNP gene provides instructions for making purine nucleoside phosphorylase. This enzyme is most active in lymphocytes. PNP metabolizes adenosine into adenine and guanosine into guanine
  • in each case creating ribose phosphate"