4,540 results match your criteria Hyperammonemia

Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.

J Med Cases 2021 Apr 8;12(4):152-156. Epub 2021 Feb 8.

Department of Anesthesiology and Critical Care, Saint Louis University Hospital, 1201 S. Grand Boulevard, St. Louis, MO 63104, USA.

Propionic acidemia (PA) is a rare, multi-systemic inborn error of metabolism. PA results from an impaired activity of the mitochondrial enzyme, propionyl-CoA carboxylase (PCC). PCC holds an essential role in the catabolic pathways for odd-chain fatty acids, cholesterol side-chains and branched-chain amino acids. Read More

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Human Liver Stem Cells: A Liver-Derived Mesenchymal Stromal Cell-Like Population With Pro-regenerative Properties.

Front Cell Dev Biol 2021 26;9:644088. Epub 2021 Apr 26.

Department of Medical Sciences, University of Torino, Turin, Italy.

Human liver stem cells (HLSCs) were described for the first time in 2006 as a new stem cell population derived from healthy human livers. Like mesenchymal stromal cells, HLSCs exhibit multipotent and immunomodulatory properties. HLSCs can differentiate into several lineages under defined conditions, such as mature hepatocytes, osteocytes, endothelial cells, and islet-like cell organoids. Read More

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Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211015025

Augusta University, Augusta, GA, USA.

Propionic acidemia is an inborn error of metabolism characterized by accumulation of propionic acid due to deficiency of propionyl-CoA carboxylase. Main stay of treatment focuses on reducing dietary protein. However, orthotropic liver transplantation decreases the frequency of metabolic decompensations and improves life expectancy. Read More

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A Rare Case of Severe Lactic Acidosis from 5-Fluorouracil after mFOLFOX6 Treatment in a Patient with Advanced Gastric Cancer.

Tae Hoon Lee Dan Le

Case Rep Oncol 2021 Jan-Apr;14(1):545-549. Epub 2021 Mar 22.

Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Gastric cancer is one of the most common cancers worldwide and is one of the deadliest types of neoplasm. Many patients present with an advanced stage where palliative chemotherapy is the standard of care. 5-Fluorouracil (5-FU) remains the backbone of systemic therapy treatment in advanced gastric cancer, although is associated with many side effects. Read More

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The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Mol Genet Metab 2021 Apr 18. Epub 2021 Apr 18.

Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address:

Glutaric aciduria type I (GA-I, OMIM # 231670) is an inborn error of metabolism caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients develop acute encephalopathic crises (AEC) with striatal injury most often triggered by catabolic stress. The pathophysiology of GA-I, particularly in brain, is still not fully understood. Read More

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Glutamine synthetase as a central element in hepatic glutamine and ammonia metabolism: novel aspects.

Biol Chem 2021 May 7. Epub 2021 May 7.

Clinic for Gastroenterology, Hepatology, and Infectious Diseases, Heinrich Heine University Düsseldorf, D-40225Düsseldorf, Germany.

Glutamine synthetase (GS) in the liver is expressed in a small perivenous, highly specialized hepatocyte population and is essential for the maintenance of low, non-toxic ammonia levels in the organism. However, GS activity can be impaired by tyrosine nitration of the enzyme in response to oxidative/nitrosative stress in a pH-sensitive way. The underlying molecular mechanism as investigated by combined molecular simulations and experiments indicates that tyrosine nitration can lead to a fully reversible and pH-sensitive regulation of protein function. Read More

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Hyperammonemia Syndrome Associated with Ureaplasma spp. Infections in Immunocompromised Patients and Transplant Recipients: A Systematic Review and Meta-Analysis.

Clin Transplant 2021 May 4:e14334. Epub 2021 May 4.

College of Medicine, University of the Philippines Manila, Taft Ave, Manila, Philippines.

Background: Hyperammonemia syndrome (HS) is reported to occur in patients with Ureaplasma spp. infections. We performed a systematic review and meta-analysis of studies reporting HS in patients with Ureaplasma spp. Read More

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Hyperammonemia in Patients With Status Epilepticus Treated With or Without Valproic Acid.

Neurologist 2021 May 5;26(3):80-82. Epub 2021 May 5.

Department of Neurology, Mayo Clinic, Rochester, MN.

Background: Hyperammonemia is a common side effect of valproic acid (VPA) and can occur after generalized seizures, but the clinical significance is unclear. The aim of this study was to better understand the clinical practice and utility of ammonia testing in status epilepticus (SE) treated with or without VPA.

Methods: Charts of adult patients with SE from St. Read More

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Ashwagandha (Withania somnifera) root extract attenuates hepatic and cognitive deficits in thioacetamide-induced rat model of hepatic encephalopathy via induction of Nrf2/HO-1 and mitigation of NF-kB/MAPK signaling pathways.

J Ethnopharmacol 2021 Apr 24:114141. Epub 2021 Apr 24.

Department of Pharmacology, Theodor Bilharz Research Institute, Kornaish El Nile, Warrak El-Hadar, Imbaba (P.O. 30), Giza, 12411, Egypt. Electronic address:

Ethnopharmacological Relevance: Ashwagandha (ASH) is one of the medicinal plants that is used in traditional Indian, Ayurvedic and Unani medicines for their broad range of pharmacological activities including tonic, aphrodisiac, energy stimulant, and counteracting chronic fatigue. Besides, it is used in the treatment of nervous exhaustion, memory related conditions, insomnia, as well as improving learning ability and memory capacity. ASH is preclinically proven to be efficient in hepatoprotection and enhancing cognitive impairment, however, its beneficial effects against hepatic encephalopathy (HE) is still unclear. Read More

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2021 ISHEN guidelines on animal models of hepatic encephalopathy.

Liver Int 2021 Apr 26. Epub 2021 Apr 26.

Hepato-Neuro Laboratory, CRCHUM, Université de Montréal, Montreal, Canada.

This working group of the International Society of Hepatic Encephalopathy and Nitrogen Metabolism (ISHEN) was commissioned to summarize and update current efforts in the development and characterization of animal models of hepatic encephalopathy (HE). As defined in humans, HE in animal models is based on the underlying degree and severity of liver pathology. Although hyperammonemia remains the key focus in the pathogenesis of HE, other factors associated with HE have been identified, together with recommended animal models, to help explore the pathogenesis and pathophysiological mechanisms of HE. Read More

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Ammonia Removal by Metabolic Scavengers for the Prevention and Treatment of Hepatic Encephalopathy in Cirrhosis.

Drugs R D 2021 Apr 22. Epub 2021 Apr 22.

Department of Medicine, University of Montreal, 45143 Cabot Trail, Englishtown, NS, B0C 1H0, Canada.

Effective lowering of circulating ammonia is the mainstay strategy in the prevention and treatment of hepatic encephalopathy in cirrhosis and there is increasing interest in agents with the metabolic potential for the active removal of ammonia by the liver and skeletal muscle by agents including L-ornithine L-aspartate, branched-chain amino acids, as well as the re-purposing of benzoate and phenylacetate currently employed for the control of hyperammonaemia in congenital urea-cycle enzymopathies. Based upon results of multiple systematic reviews with meta-analyses, L-ornithine L-aspartate demonstrably lowers circulating ammonia in patients with cirrhosis with concomitantly improved mental status. Distinct mechanisms responsible include optimisation of hepatic metabolic pathways for ammonia removal as well as direct hepatoprotective effects involving the release of glutathione and of nitric oxide with beneficial effects on hepatic microcirculation. Read More

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Clostridium Difficile and Noncirrhotic Hyperammonnemia in a Patient With COVID-19 Infection.

Cureus 2021 Apr 17;13(4):e14533. Epub 2021 Apr 17.

Cardiology, UnityPoint Health, Des Moines, USA.

is a bacterial infection that usually presents with diarrhea and is mostly associated with previous antibiotics use. Patients with coronavirus disease 2019 (COVID-19) generally have respiratory symptoms but can also present with diarrhea. Noncirrhotic hyperammonemia is an infrequent presentation and is treated with lactulose. Read More

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Managing valproic acid toxicity-related hyperammonaemia: an unpredicted course.

BMJ Case Rep 2021 Apr 19;14(4). Epub 2021 Apr 19.

Department of Pharmacy, Mayo Clinic Rochester, Rochester, Minnesota, USA.

A 20-year-old woman presented following an intentional overdose of valproic acid. Use of valproic acid, either acute or chronic, can result in hyperammonaemia. Mild hyperammonaemia with chronic use is mostly asymptomatic but can also present with concern for encephalopathy. Read More

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

Pediatr Dermatol 2021 Apr 19. Epub 2021 Apr 19.

Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. Read More

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COVID-19 and hyperammonemia: Potential interplay between liver and brain dysfunctions.

Brain Behav Immun Health 2021 Jul 13;14:100257. Epub 2021 Apr 13.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Although COVID-19 affects the respiratory system, extrapulmonary manifestations frequently occur, including encephalopathy and liver damage. Here, we want to call attention to a possible connection between liver and brain dysfunctions, in which ammonia can play a role targeting astrocytes. Importantly, astrocyte dysfunction can produce future and/or long-term neurological consequences. Read More

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Neuromyelitis Optica Complicated by Ornithine Transcarbamylase Deficiency Treated Safely with Pulse Steroid Therapy.

Intern Med 2021 Apr 19. Epub 2021 Apr 19.

Department of Neurology, Yokohama Rosai Hospital, Japan.

Steroid administration to patients with urea cycle disorders can cause hyperammonemia. We encountered a 36-year-old woman with neuromyelitis optica (NMO) complicated by ornithine transcarbamylase (OTC) deficiency. By reducing the doses of steroids and adequate infusion management, we were able to administer pulse steroid therapy without any severe complications. Read More

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.

J Inherit Metab Dis 2021 Apr 16. Epub 2021 Apr 16.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency, some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency, and some adults are diagnosed after developing adult-onset type 2 citrullinemia (CTLN2) with hyperammonemia or encephalopathy. A diagnosis is needed before the development of severe phenotypic CTLN2 but is often difficult to obtain because newborn mass screening cannot detect all patients with citrin deficiency, and undiagnosed patients often appear healthy in childhood. Read More

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Hyperammonemia-induced impaired consciousness following mFOLFOX6 therapy in a patient with recurrent rectal cancer.

Int J Clin Pharmacol Ther 2021 Apr 16. Epub 2021 Apr 16.

Objectives: FOLFOX is a standard chemotherapy regimen used to treat colorectal cancer. Adverse events associated with FOLFOX treatment include peripheral neuropathy and myelosuppression. This report discusses the case of a 64-year-old man with rectal cancer who developed hyperammonemia and impaired consciousness following initiation of mFOLFOX6 as a postoperative adjuvant therapy. Read More

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Amelioration of Hepatic Encephalopathy Using Microalgae in Rats: Modulation of Hyperammonemia/TLR4.

Biomed Res Int 2021 28;2021:8843218. Epub 2021 Mar 28.

Pharmacology Department, National Research Centre (NRC), 33 El Buhouth St., Dokki, Cairo 12622, Egypt.

Hepatic encephalopathy (HE) is a neuropsychiatric disease that is developed as a complication of both acute and chronic liver failure affecting psychomotor dysfunction, memory, and concentration. This study is aimed at evaluating the therapeutic effects of (. ) microalgae in thioacetamide- (TAA-) induced HE in rats. Read More

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Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Am J Med Genet A 2021 Apr 13. Epub 2021 Apr 13.

Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia with variable clinical manifestations. Using data from a nationwide study, we investigated the onset time, gene variants, clinical manifestations, and treatment of patients with UCDs in Japan. Of the 229 patients with UCDs diagnosed and/or treated between January 2000 and March 2018, identified gene variants and clinical information were available for 102 patients, including 62 patients with ornithine transcarbamylase (OTC) deficiency, 18 patients with carbamoyl phosphate synthetase 1 (CPS1) deficiency, 16 patients with argininosuccinate synthetase (ASS) deficiency, and 6 patients with argininosuccinate lyase (ASL) deficiency. Read More

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Biomarkers for liver disease in urea cycle disorders.

Mol Genet Metab 2021 Apr 8. Epub 2021 Apr 8.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

Background: Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. As therapies for hyperammonemia associated with urea cycle dysfunction have improved, chronic complications, such as liver disease, have become increasingly apparent in individuals with UCDs. Liver disease in UCDs may be associated with hepatic inflammation, hepatic fibrosis, portal hypertension, liver cancer and even liver failure. Read More

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Fecal microbiota transplantation in hepatic encephalopathy: a systematic review.

Scand J Gastroenterol 2021 05 10;56(5):560-569. Epub 2021 Apr 10.

Gastro Unit, Medical Division, Hvidovre University Hospital, Copenhagen, Denmark.

Hepatic encephalopathy (HE) is a reversible neurocognitive dysfunction that ranges in severity from subclinical alterations to coma. Patients with chronic liver disease are predisposed to HE due to metabolic failure and portosystemic shunting of toxins, of which ammonia is believed to be the main toxic chemical. Fecal microbiota transplantation (FMT) may reduce ammonia synthesis by altering the gut microbiota composition to a taxon low in urease, diminish uptake of ammonia by reestablishing the integrity of the intestinal barrier and increase ammonia clearance by improving liver function. Read More

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Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.

J Inherit Metab Dis 2021 Apr 11. Epub 2021 Apr 11.

Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to document all UCDs in Japan, including diagnoses, treatments, and outcomes. Read More

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Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia.

Open Med (Wars) 2021 23;16(1):455-458. Epub 2021 Mar 23.

Department of Gastroenterology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. Read More

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An Unusual Case of Hyperammonemia Following Gastric Bypass Surgery.

Am J Med 2021 Mar 31. Epub 2021 Mar 31.

Kaiser Medical Center, Sacramento, Calif.

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An Overview of the Molecular Mechanisms Contributing to Musculoskeletal Disorders in Chronic Liver Disease: Osteoporosis, Sarcopenia, and Osteoporotic Sarcopenia.

Int J Mol Sci 2021 Mar 5;22(5). Epub 2021 Mar 5.

Department of Internal Medicine, Hallym University College of Medicine, Gangwon-do, Chuncheon 24252, Korea.

The prevalence of osteoporosis and sarcopenia is significantly higher in patients with liver disease than in those without liver disease and osteoporosis and sarcopenia negatively influence morbidity and mortality in liver disease, yet these musculoskeletal disorders are frequently overlooked in clinical practice for patients with chronic liver disease. The objective of this review is to provide a comprehensive understanding of the molecular mechanisms of musculoskeletal disorders accompanying the pathogenesis of liver disease. The increased bone resorption through the receptor activator of nuclear factor kappa (RANK)-RANK ligand (RANKL)-osteoprotegerin (OPG) system and upregulation of inflammatory cytokines and decreased bone formation through increased bilirubin and sclerostin and lower insulin-like growth factor-1 are important mechanisms for osteoporosis in patients with liver disease. Read More

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Emerging Treatment Options for Sarcopenia in Chronic Liver Disease.

Yun Kim

Life (Basel) 2021 Mar 17;11(3). Epub 2021 Mar 17.

Hanyang Medicine-Engineering-Bio Collaborative & Comprehensive Center for Drug Development, Hanyang University, Seoul 04763, Korea.

Sarcopenia is characterized by a skeletal muscle disorder with progressive and generalized loss of muscle mass and function, and it increases the risk of adverse outcomes with considerable prevalence in patients with chronic liver disease. Sarcopenia in chronic liver disease underlies complicated and multifactorial mechanisms for pathogenesis, including alterations in protein turnover, hyperammonemia, energy disposal, hormonal changes, and chronic inflammation. The key contribution to sarcopenia in patients with chronic liver diseases can be the hyperammonemia-induced upregulation of myostatin, which causes muscle atrophy via the expression of atrophy-related genes. Read More

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Evaluation of the Long-term Administration of Rifaximin for More than Three Years in the Treatment of Repeated and Recurrent Overt Hepatic Encephalopathy.

Intern Med 2021 1;60(7):1027-1033. Epub 2021 Apr 1.

Division of Hepatology, Department of Internal Medicine, Iwate Medical University, Japan.

The patient was a 65-year-old man with alcoholic liver cirrhosis who had been admitted to hospital 5 times for repeated and recurrent overt hepatic encephalopathy (HE) despite numerous therapies, including disaccharide, branched-chain amino acid (BCAA) formula, L-carnitine and zinc. After the additional administration of rifaximin (1,200 mg/day orally), his consciousness level was well controlled for 3 years without any adverse effects. The long-term administration of rifaximin may be useful and safe for managing recurrent overt HE, although the maintenance dosage and duration of rifaximin and safety should be evaluated in patients with ameliorated HE. Read More

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