ArticlePloS one2016
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
- Biomarkers for liver disease in urea cycle disorders.Molecular genetics and metabolism · 2021Trial
- Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders.Molecular genetics and metabolism · 2025Article
- Metabolic reprogramming in hepatocellular carcinoma: mechanisms and therapeutic implications.Experimental & molecular medicine · 2025Review
- Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.Italian journal of pediatrics · 2024Article
- Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.Molecular genetics and metabolism · 2023Review
- Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.Molecular genetics and metabolism reports · 2022Article
- Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.Life (Basel, Switzerland) · 2022Article
- Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.Hepatology (Baltimore, Md.) · 2022Article
- The effect of liver transplantation for argininemia-the largest experiences in a single center.Translational pediatrics · 2022Article
- Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium.Diagnostics (Basel, Switzerland) · 2022Article
- Movement Disorders and Liver Disease.Movement disorders clinical practice · 2021Review
- Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.Journal of inherited metabolic disease · 2021Article
- Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.American journal of medical genetics. Part A · 2021Article
- Article
- Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.JCI insight · 2020Article
- Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females WithFrontiers in pediatrics · 2020Article
- Article
- Numerical Investigations of Hepatic Spheroids Metabolic Reactions in a Perfusion Bioreactor.Frontiers in bioengineering and biotechnology · 2019Article
- Impact of pregnancy on inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.JIMD reports · 2018Article
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundAcute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD is not well-defined and the pathogenesis is not known.
aimTo evaluate the prevalence of ALF in OTCD, we analyzed the Swiss patient cohort. Laboratory data from 37 individuals, 27 females and 10 males, diagnosed between 12/1991 and 03/2015, were reviewed for evidence of ALF. In parallel, we performed cell culture studies using human primary hepatocytes from a single patient treated with ammonium chloride in order to investigate the inhibitory potential of ammonia on hepatic protein synthesis.
resultsMore than 50% of Swiss patients with OTCD had liver involvement with ALF at least once in the course of disease. Elevated levels of ammonia often correlated with (laboratory) coagulopathy as reflected by increased values for international normalized ratio (INR) and low levels of hepatic coagulation factors which did not respond to vitamin K. In contrast, liver transaminases remained normal in several cases despite massive hyperammonemia and liver involvement as assessed by pathological INR values. In our in vitro studies, treatment of human primary hepatocytes with ammonium chloride for 48 hours resulted in a reduction of albumin synthesis and secretion by approximately 40%.
conclusionIn conclusion, ALF is a common complication of OTCD, which may not always lead to severe symptoms and may therefore be underdiagnosed. Cell culture experiments suggest an ammonia-induced inhibition of hepatic protein synthesis, thus providing a possible pathophysiological explanation for hyperammonemia-associated ALF.
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