Adenine phosphoribosyltransferase deficiency

external

• Causes

  • APRT gene mutation

• Effects

  • High plasma urate
  • Renal calculi
  • Chronic renal failure

• Parents

  • Autosomal recessive congenital metabolic disease

• Description

  • "impairs conversion of adenine to AMP. Thus adenine is converted to2
  • 8-dihydroxyadenine. 2
  • 8-DHA crystallizes in urine
  • forming stones renal calculi. 2
  • 8-DHA crystals are brownish in color
  • hence affected infants frequently have dark urine stains in their diapers. DHA is toxic to kidneys. Hence the decline in kidney function."