ArticleCase reports in neurological medicine2015
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.
Article in Case reports in neurological medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.BMC pediatrics · 2026Article
- Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.BMJ case reports · 2024Article
- Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.Children (Basel, Switzerland) · 2023Review
- The functional impact of 1,570 individual amino acid substitutions in human OTC.American journal of human genetics · 2023Article
- Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery.Cureus · 2022Article
- Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.BMC gastroenterology · 2022Article
- Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.Molecular therapy. Methods & clinical development · 2022Article
- Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.Frontiers in pediatrics · 2022Article
- Neuromyelitis Optica Complicated by Ornithine Transcarbamylase Deficiency Treated Safely with Pulse Steroid Therapy.Internal medicine (Tokyo, Japan) · 2021Article
- Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review.The Neurohospitalist · 2019Article
- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.JIMD reports · 2018Article
- Association between the blood concentrations of ammonia and carnitine/amino acid of schizophrenic patients treated with valproic acid.BioPsychoSocial medicine · 2017Article
- Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm.The oncologist · 2016Article
- Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.Journal of medical case reports · 2015Article
- Follow-up to 'Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass'.Anaesthesia reportsArticle
- Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass.Anaesthesia reportsArticle
- Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. OTCD should be considered in any patient with hyperammonemic encephalopathy and immediate treatment should be given to avoid a fatal outcome. We emphasize the need to examine other family members if the diagnosis is confirmed, in order to prevent further life-threatening episodes of encephalopathy or neonatal coma of newborn.
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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.