ArticleMetabolic brain disease2018
Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
Article in Metabolic brain disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Clinical Practice Guidelines for Liver Transplantation in Saudi Arabia.Saudi medical journal · 2021Guideline
- Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations.Orphanet journal of rare diseases · 2026Review
- Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.Orphanet journal of rare diseases · 2025Article
- Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.Orphanet journal of rare diseases · 2025Article
- Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Hyperammonemia in Inherited Metabolic Diseases.Cellular and molecular neurobiology · 2022Review
- Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.World journal of clinical cases · 2022Article
- Mitochondrial hepatopathy: Anticipated difficulties in management of fatty acid oxidation defects and urea cycle defects.World journal of hepatology · 2022Review
- Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.Frontiers in genetics · 2022Article
- Outcomes After Living Donor Liver Transplantation in Pediatric Patients with Inherited Metabolic Diseases.Annals of transplantation · 2021Article
- Neurophysiological characteristics in argininemia: a case report.Translational pediatrics · 2021Article
- Physical, cognitive, and social status of patients with urea cycle disorders in Japan.Molecular genetics and metabolism reports · 2021Article
- Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.International journal of neonatal screening · 2020Review
- Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.Annals of neurology · 2019Observational
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Neurodevelopmental outcomes of patients with UCDs depend on the maximum ammonia concentration (MAC) in the blood during onset. MAC ≥360 μM is a marker of poor neurodevelopmental outcomes. We investigated the neurodevelopmental outcomes and MAC at onset for 177 patients with UCDs in Japan (median age, 8 years and 2 months; range, 10 days-72 years), including 57 patients with male ornithine transcarbamylase (OTCD), 59 patients with female OTCD, 23 patients with carbamoyl-phosphate synthetase 1 deficiency (CPSD), 28 patients with arginosuccinate synthetase deficiency, 9 patients with arginosuccinate lyase deficiency (ALD), and 1 patient with arginase 1 deficiency. Neurodevelopmental outcomes of patients with CPSD and ALD were poor because most had neonatal onset with blood MAC ≥300 μM at onset. Although OTCD, particularly female late-onset OTCD, has good neurodevelopmental outcomes among those with UCDs, it is not necessarily a mild disease with good long-term outcomes. Patients with severe UCDs and MAC ≥300 μM at onset should undergo liver transplantation (LT). Moreover, this study suggested that if the onset of UCD began during the neonatal period, then even UCD patients with MAC <300 μM at onset should undergo LT to protect the brain.
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