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

7 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk