GTR Home > Conditions/Phenotypes > Deficiency of AMP pyrophorylase

Disease characteristics

Excerpted from the GeneReview: Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of and urinary excretion of 2,8-dihydroxyadenine (DHA) leading to kidney stone formation and chronic kidney disease. Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular precipitation of DHA crystals can result in renal failure (i.e., DHA crystalline nephropathy).

Available tests

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Associated genes

Clinical features

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  • Hematuria
  • Recurrent urinary tract infections
  • Renal insufficiency
  • Nephropathy
  • Nephrolithiasis

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