ReviewJournal of human genetics2019
Urea cycle disorders-update.
Review in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
128 citing papers in PubMed, 210 citations in OpenAlex.
- Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case.JIMD reports · 2026Article
- The Role of Sodium Valproate in Clozapine-Associated Cardiotoxicities: The Importance of Cellular and Systemic Energetics.Cardiovascular toxicology · 2026Review
- Hyperammonaemic encephalopathy following bariatric surgery: detailed biochemical phenotyping and pathophysiology informed treatment.European journal of clinical nutrition · 2026Article
- Revolutionizing neonatal health: India's journey from assays to advanced genetics.Journal of applied genetics · 2026Review
- Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study.Orphanet journal of rare diseases · 2026Observational
- Low-Dose Ionizing Radiation and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS): A Review of Recent Evidence and Future Research Directions Toward the Elucidation of a Metabolic, Immunologic, and Signaling Cascade.International journal of molecular sciences · 2026Review
- Citrulline drives age-related lipid deposition for healthspan.Nature communications · 2026Article
- Urea cycle fumarate limits fibrosis post-myocardial infarction by reducing fibroblast mitochondrial adenosine triphosphate production.Cardiovascular research · 2026Article
- Urea nitrogen levels in postmortem serum, vitreous humor, and cerebrospinal fluid.International journal of legal medicine · 2026Article
- Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate.Orphanet journal of rare diseases · 2026Review
- Protein arginine methyltransferase 5 orchestrates the homeostasis and reconstitution of intestinal stem cell niche via balancing urea cycling.Cell communication and signaling : CCS · 2026Article
- RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.Science translational medicine · 2026Article
- P5CS-coupled proline metabolism manipulates metabolic dysfunction-associated steatotic liver disease.Life metabolism · 2026Article
- Potent Liver-Tropic mRNA Lipid Nanoparticles: ApoE-Mediated Delivery Through a Low-Density Lipoprotein Receptor Independent Uptake Mechanism.Advanced materials (Deerfield Beach, Fla.) · 2026Article
- A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.Clinical case reports · 2026Article
- Urea cycle modulation by combined SGLT2 inhibitors and metformin.BMC medicine · 2026Article
- Overt and subclinical hypothyroidism during pregnancy: effects on neonatal amino acids, acylcarnitines, and TSH levels.Frontiers in endocrinology · 2026Article
- The integration of plasma non-target metabolomics and lipidomics analysis for the discovery of global developmental delay/intellectual disability biomarkers.Frontiers in cellular neuroscience · 2026Article
- A seven-year longitudinal study of the Alzheimer's disease blood metabolome.medRxiv : the preprint server for health sciences · 2025Article
- Amino acid metabolic signatures of dynapenic obesity in older adults: a (principal component analysis) PCA-based sex-stratified analysis in the Bushehr elderly health program.Journal of diabetes and metabolic disorders · 2025Article
68 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about 50% of cases) or later. Congenital defects of the enzymes or transporters of the urea cycle cause the disease. This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondrial matrix, whereas the others (argininosuccinate synthetase, argininosuccinate lyase and arginase 1) are present in the cytoplasm. In addition, N-acetylglutamate synthase and at least two transporter proteins are essential to urea cycle function. Severity and age of onset depend on residual enzyme or transporter function and are related to the respective gene mutations. The strategy for therapy is to prevent the irreversible toxicity of high-ammonia exposure to the brain. The pathogenesis and natural course are poorly understood because of the rarity of the disease, so an international registry system and novel clinical trials are much needed. We review here the current concepts of the pathogenesis, diagnostics, including genetics and treatment of UCDs.
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What OpenQuestion holds
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.