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Adenine phosphoribosyltransferase deficiency
rareAdenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
- Identifiers
- MONDO:0013869 OMIM:614723Orphanet:976
- Causal genes
- APRT
- Also known as
- 2,8-dihydroxyadenine urolithiasis · 2,8-dihydroxyadeninuria disease · APRT deficiency · APRTD · Dihydroxyadeninuria
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