ArticleMolecular genetics and metabolism reports2022
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.Metabolic brain disease · 2026Review
- Article
- Management of a urea cycle disorder in the setting of socioeconomic and language barriers.Molecular genetics and metabolism reports · 2024Article
- Article
- Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.Children (Basel, Switzerland) · 2023Review
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1 author at 1 institution in 1 country.
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Abstract
Urea cycle disorders (UCDs) are a group of rare inherited metabolic conditions caused by enzyme deficiency within the hepatic ammonia detoxification pathway. Ornithine transcarbamylase (OTC) deficiency, the most frequently occurring UCD, is an X-linked condition known to yield a vastly heterogeneous phenotype, with variable onset and presentation across the lifespan. Here, we introduce a series of 4 original cases, published as part of this special supplement, that illustrate learnings for the care of heterozygous females with OTC deficiency, including challenges with diagnosis, potential triggers of hyperammonemia, cognitive effects, and approaches to disease management, including peripartum care.
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