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APRT deficiency, Japanese type

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Concept ID:
Disease or Syndrome

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). [from GeneReviews]

MedGen UID:
Concept ID:
Disease or Syndrome

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