SynthesisJournal of inherited metabolic disease2016
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.
Synthesis in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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.
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.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.Journal of inherited metabolic disease · 2018Pooled it
- Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Molecular genetics & genomic medicine · 2026Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.npj metabolic health and disease · 2025Article
- Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.Journal of inherited metabolic disease · 2025Article
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Continuous renal replacement therapy and therapeutic plasma exchange in pediatric liver failure.European journal of pediatrics · 2024Article
- Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.BMC pregnancy and childbirth · 2024Article
- Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Newborn ornithine carbamyltransferase deficiency caused by newTranslational pediatrics · 2023Article
- Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.Children (Basel, Switzerland) · 2023Review
- China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases.Orphanet journal of rare diseases · 2023Article
- Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.Annals of clinical and translational neurology · 2022Article
- Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.Hepatology (Baltimore, Md.) · 2022Article
- Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.The Journal of pediatrics · 2022Article
- Hemizygous deletion in theWorld journal of clinical cases · 2022Article
- [Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2020Review
- Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.International journal of neonatal screening · 2020Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFor urea cycle disorders (UCD), proportions and mortality of early onset (EO) patients, as well as outcome at one year of life show large variability. We aimed to integrate available evidence to create benchmarks for new diagnostic and therapeutic strategies.
methodsMedline search for reports published between 1978 and Dec 22, 2014 was completed by hand search. Random effects meta-analysis was done for four UCDs, deficiency of carbamylphosphate synthetase 1 (CPS1D), male/female ornithine transcarbamylase (OTCDm/f), argininosuccinate synthetase (ASSD) and lyase (ASLD). Effects of publication year and geographic area were analysed by meta-regression.
resultsTwenty-four publications report onset time (n = 1542 patients), survival of EO (n = 665 patients) and outcome at one year of life (n = 172 patients). Proportions for EO manifestation (95% confidence interval) were: CPS1D = 0.75 (0.61;0.88); OTCDm = 0.52 (0.39;0.65); OTCDf = 0.07 (0.03;0.11); ASSD = 0.65 (0.57;0.73); ASLD = 0.60 (0.44;0.77); for surviving EO patients: CPS1D = 0.64 (0.50;0.79); OTCDm = 0.40 (0.16;0.64); OTCDf = 0.57 (0.29;0.85); ASSD = 0.67 (0.48;0.86); ASLD = 0.81 (0.68;0.94); and for normal outcome at one year for survivors: CPS1D = 0.20 (0.07;0.38); OTCDm = 0.15 (0.00;0.39); OTCDf no data; ASSD = 0.36 (0.13;0.60); ASLD = 0.36 (0.17;0.58). Between study variation was large. Year of publication had no effect. Studies from Europe showed lower survival rates than those from Japan or USA.
conclusionsUCDs, except for OTCDf, have high risks of EO disease manifestation and, except for ASLD, of neonatal death. No improvement of survival was observed over more than three decades. Geographic variation remains to be explained. This comprehensive description of the natural history of EO UCDs should be considered by scientists, clinicians, health policy makers and guideline developers.
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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.