ReviewWorld journal of gastroenterology2015
Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature review.
Review in World journal of gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Nutritional Interventions for Patients with Mitochondrial POLG-Related Diseases: A Systematic Review on Efficacy and Safety.International journal of molecular sciences · 2022Pooled it
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.Molecular genetics and metabolism reports · 2025Article
- Industrial Microbial Technologies for Feed Protein Production from Non-Protein Nitrogen.Microorganisms · 2025Review
- Development of a Two-Dimensional Liquid Chromatographic Method for Analysis of Urea Cycle Amino Acids.Molecules (Basel, Switzerland) · 2024Article
- Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.Molecular genetics and metabolism · 2023Review
- Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.Biomedicines · 2023Review
- Hepatic encephalopathy due to aorto-right ventricular fistula responsive to percutaneous repair: a case report.European heart journal. Case reports · 2023Article
- Urea cycle disorders and indications for liver transplantation.Frontiers in pediatrics · 2023Article
- Hyperammonemia in lung transplant patients and its management: a review.Indian journal of thoracic and cardiovascular surgery · 2022Review
- Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.World journal of clinical cases · 2022Article
- Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report.Experimental and therapeutic medicine · 2020Article
- Cause for Confusion: Noncirrhotic Hyperammonemic Encephalopathy.Clinical liver disease · 2020Review
- Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.The neuroradiology journal · 2018Review
- Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of theBioMed research international · 2018Article
- Review
- Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells.Molecular therapy. Nucleic acids · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The urea cycle is the final pathway for nitrogen metabolism. Urea cycle disorders (UCDs) include a variety of genetic defects, which lead to inefficient urea synthesis. Elevated blood ammonium level is usually dominant in the clinical pattern and the primary manifestations affect the central nervous system. Herein, we report the case of a 17-year-old girl who was diagnosed with UCD at the age of 3. Despite a controlled diet, she was hospitalized several times for acute attacks with recurrent life risk. She came to our attention for a hyperammonemic episode. We proposed an orthotopic liver transplant (OLT) as a treatment; the patient and her family were in complete agreement. On February 28, 2007, she successfully received a transplant. Following the surgery, she has remained well, and she is currently leading a normal life. Usually for UCDs diet plays the primary therapeutic role, while OLT is often considered as a last resort. Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment.
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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.