ReviewChildren (Basel, Switzerland)2023
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
Review in Children (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- 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
- Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.BMC pediatrics · 2026Article
- Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis.Annals of medicine and surgery (2012) · 2026Article
- Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).Journal of patient-reported outcomes · 2025Article
- Asparaginase-associated hyperammonemia.Haematologica · 2025Review
- Acute hyperammonemic encephalopathy masquerading as postoperative delirium in a patient who underwent lung surgery: a case report.BMC anesthesiology · 2025Article
- Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre.JIMD reports · 2024Article
- Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.Frontiers in nutrition · 2024Article
- In-depth analysis ofFrontiers in pediatrics · 2024Article
- Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.Molecular genetics and metabolism reports · 2023Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and death. Patients with late-onset OTCD can develop symptoms from infancy to later childhood, adolescence or adulthood. Clinical manifestations of adults with OTCD vary in acuity. Clinical symptoms can be aggravated by metabolic stressors or the presence of a catabolic state, or due to increased demands upon the urea. A prompt diagnosis and relevant biochemical and genetic investigations allow the rapid introduction of the right treatment and prevent long-term complications and mortality. This narrative review outlines challenges in diagnosing and managing patients with late-onset OTCD.
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