ReviewJournal of inherited metabolic disease2007
Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.
Review in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 46 citations in OpenAlex.
- The hitchhiker's guide to feline xanthinuria.Journal of feline medicine and surgery · 2026Review
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response.The FEBS journal · 2025Article
- D-ribose-5-phosphate inactivates YAP and functions as a metabolic checkpoint.Journal of hematology & oncology · 2025Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Metabolic discrimination of synovial fluid between rheumatoid arthritis and osteoarthritis using gas chromatography/time-of-flight mass spectrometry.Metabolomics : Official journal of the Metabolomic Society · 2022Article
- Metabolomic Profiles of Mouse Tissues Reveal an Interplay between Aging and Energy Metabolism.Metabolites · 2021Article
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in theMolecular genetics and metabolism reports · 2020Article
- Association of hyperuricemia and gamma glutamyl transferase as a marker of metabolic risk in alcohol use disorder.Scientific reports · 2020Article
- Article
- Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.BMC research notes · 2017Article
- An unusual cause of "pink diaper" in an infant: Answers.Pediatric nephrology (Berlin, Germany) · 2016Article
- (1)H NMR-based metabolomic analysis for identifying serum biomarkers to evaluate methotrexate treatment in patients with early rheumatoid arthritis.Experimental and therapeutic medicine · 2012Article
- Comparison of mouse urinary metabolic profiles after exposure to the inflammatory stressors γ radiation and lipopolysaccharide.Radiation research · 2012Article
- Metabolic profile of amniotic fluid as a biochemical tool to screen for inborn errors of metabolism and fetal anomalies.Molecular and cellular biochemistry · 2012Article
- Inborn errors of purine and pyrimidine metabolism.Journal of inherited metabolic disease · 2009Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purine inborn errors of metabolism (IEM) are serious hereditary disorders, which should be suspected in any case of neonatal fitting, failure to thrive, recurrent infections, neurological deficit, renal disease, self-mutilation and other manifestations. Investigation usually starts with uric acid (UA) determination in urine and plasma. UA, the final product of purine metabolism in humans, may be altered not only in purine IEM, but also in other related pathologies and clinical conditions. However, data and information about abnormal UA levels are scattered in the literature, often being controversial and confusing. A comprehensive overview has been elaborated, according to abnormal UA levels in urine and plasma, which associates these alterations with purine IEM. Other possible diseases, clinical conditions, diet and drug intake, related to the metabolism of uric acid, are also presented. The article includes tables that classify the disorders according to different patterns of UA alterations, with pertinent enzymes, clinical symptoms, inheritance and comments. Additionally, summarized pathophysiological mechanisms of important disorders are described. The overview is intended to assist in the interpretation of the results of UA analyses. It demonstrates that variation of UA concentrations in urine and plasma may constitute an effective tool in screening for purine IEM and other related pathological conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.