Adenine phosphoribosyltransferase deficiency.

doi:10.2215/CJN.02320312

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Adenine phosphoribosyltransferase deficiency.

Clinical journal of the American Society of Nephrology : CJASN - 1 Sept 2012

Bollée Guillaume, Harambat Jérôme, Bensman Albert, Knebelmann Bertrand, Daudon Michel, Ceballos-Picot Irène

Abstract excerpt

Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones. The disease can present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into...

Topics

Adenine
Adenine Phosphoribosyltransferase
Allopurinol
Animals
Biomarkers
Disease Progression
Enzyme Inhibitors
Genetic Predisposition to Disease
Humans
Kidney Diseases
Metabolism, Inborn Errors
Phenotype
Predictive Value of Tests
Prognosis
Recurrence
Urolithiasis
Xanthine Dehydrogenase

Source

Open in PubMed

Identifiers

PMID: 22700886
DOI: 10.2215/CJN.02320312

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics