MeSH Browser

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
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 MeSH Supplementary Concept Data 2024