GTR Home > Conditions/Phenotypes > Adenine phosphoribosyltransferase deficiency

Summary

Excerpted from the GeneReview: Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production of 2,8-dihydroxyadenine (DHA), which is excreted in the urine, where it is poorly soluble and leads to kidney stone formation and chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected individuals symptoms do not occur until adulthood. In a significant number of individuals, intratubular and interstitial precipitation of DHA crystals can result in kidney failure (i.e., DHA crystal nephropathy).

Available tests

20 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: AMP, APRTD, APRT
    Summary: adenine phosphoribosyltransferase

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