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Adenine phosphoribosyltransferase deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
Adenine phosphoribosyltransferase deficiency
Unique ID
C538228
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538228
Entry Term(s)
2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadeninuria
APRT Deficiency
DHA Crystalline Nephropathy
Urolithiasis, 2,8-Dihydroxyadenine
Registry Numbers
0
Heading Mapped to
Adenine Phosphoribosyltransferase / deficiency
*Metabolism, Inborn Errors
*Urolithiasis
Frequency
51
Note
An autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the KIDNEY, resulting in crystalluria and KIDNEY STONES. Clinical features include RENAL COLIC; HEMATURIA; URINARY TRACT INFECTION; DYSURIA, and sometimes RENAL FAILURE. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic. Caused by mutations in the APRT gene. OMIM: 614723
Date of Entry
2010/06/25
Revision Date
2015/08/17
Adenine phosphoribosyltransferase deficiency Preferred
2,8-Dihydroxyadenine Urolithiasis Related
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