SynthesisJournal of inherited metabolic disease2019
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
Synthesis in Journal of inherited metabolic disease, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00237315 (Longitudinal Study of Urea Cycle Disorders), which is not on this map. Cited by 25 papers, 2 of them syntheses that pooled it.
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.
Longitudinal Study of Urea Cycle Disorders
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- CPS1: a multipurpose mitochondrial enzyme, bile protein, acute liver injury biomarker, and cytokine.Gut · 2026Review
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report.Cureus · 2026Article
- Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.Metabolic brain disease · 2026Review
- Current Treatment Modalities for Urea Cycle Disorders.Paediatric drugs · 2025Review
- A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.Disease models & mechanisms · 2025Article
- Article
- Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.Journal of inherited metabolic disease · 2025Article
- The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.Journal of inherited metabolic disease · 2024Article
- Management of a urea cycle disorder in the setting of socioeconomic and language barriers.Molecular genetics and metabolism reports · 2024Article
- Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.Pediatric research · 2023Article
- Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.Molecular genetics and metabolism · 2023Review
- Review
- The landscape of CRISPR/Cas9 for inborn errors of metabolism.Molecular genetics and metabolism · 2023Review
- Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.Molecular genetics and metabolism reports · 2022Article
- Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.Molecular genetics and metabolism reports · 2022Article
- Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.International journal of molecular sciences · 2022Article
- Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.Annals of clinical and translational neurology · 2022Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Urea cycle disorders (UCDs) are rare inherited metabolic conditions that impair the effectiveness of the urea cycle responsible for removing excess ammonia from the body. The estimated incidence of UCDs is 1:35 000 births, or approximately 113 new patients with UCD per year. This review summarizes neuropsychological outcomes among patients with the eight UCDs in reports published since 1980. Rates of intellectual disabilities published before (and including) 2000 and after 2000 were pooled and compared for each UCD. Since diagnoses for UCDs tended to occur earlier and better treatments became more readily available after the turn of the century, this assessment will characterize the extent that current management strategies have improved neuropsychological outcomes. The pooled sample included data on cognitive abilities of 1649 individuals reported in 58 citations. A total of 556 patients (34%) functioned in the range of intellectual disabilities. The decline in the proportion of intellectual disabilities in six disorders, ranged from 7% to 41%. Results from various studies differed and the cohorts varied with respect to age at symptom onset, age at diagnosis and treatment initiation, current age, severity of the metabolic deficiency, management strategies, and ethnic origins. The proportion of cases with intellectual disabilities ranged from 9% to 65% after 2000 in the seven UCDs associated with cognitive deficits. Positive outcomes from some studies suggest that it is possible to prevent or reverse the adverse impact of UCDs on neuropsychological functioning. It is time to "raise the bar" in terms of expectations for treatment effectiveness.
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Registered trials
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