Hepatocellular Adenoma in a Patient with Ornithine Transcarbamylase Deficiency
Case Reports in Hepatology, 2019 Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that leads to hyperammonemia and liver damage. Hepatocellular adenoma in OTC deficiency patients has not been previously described.
Lin Cheng +4 more
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SAGE Open Medical Case Reports, 2014 Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene.
Eric T Rush +3 more
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Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature [PDF]
Journal of Medical Case Reports, 2010 Introduction Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males.
Kirk Edwin P +3 more
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Orphanet Journal of Rare DiseasesBackground Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine
Zhilei Zhang +9 more
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Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency [PDF]
Brain Sciences, 2022 Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits.
Bjarke Hammer Niclasen +5 more
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Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium
Diagnostics, 2022 Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births.
Rastislav Sysák +5 more
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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency [PDF]
Annals of Clinical and Translational Neurology, 2022 Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even ...
Svenja Scharre +12 more
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Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency [PDF]
Case Reports in Critical Care, 2013 Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be
Daniel L. Roberts +5 more
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Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency. [PDF]
Epileptic DisordEpileptic Disorders, Volume 28, Issue 5, Page 1698-1700, October 2026.
Bragatti JA, Grigoletto L.
europepmc +2 more sources
Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency [PDF]
Annals of Indian Academy of NeurologyBoby V Maramattom, Priniya Saul
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