4,785 results match your criteria Hyperammonemia


Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221101855

Maimonides Medical Center, Brooklyn, NY, USA.

Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease. Noncirrhotic hyperammonemia is primarily due to increased production and/or decreased elimination of ammonia. Read More

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Extrahepatic portosystemic shunts as an unusual but treatable cause of hyperammonemic encephalopathy in a noncirrhotic patient - a case report.

Ther Adv Neurol Disord 2022 14;15:17562864221097614. Epub 2022 May 14.

Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany.

We report a case of hyperammonemic encephalopathy due to extrahepatic portosystemic shunts in a noncirrhotic patient. A 79-year-old woman suffered from episodic confusion, disorientation, dysphasia and fluctuating level of consciousness. Electroencephalography (EEG) showed encephalopathic changes and serum levels of ammonia were elevated. Read More

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Case Report: A Case of Valproic Acid-Induced Hyperammonemic Encephalopathy Associated With the Initiation of Lithium: A Re-duplicable Finding.

Front Psychiatry 2022 2;13:875636. Epub 2022 May 2.

Department of Psychiatry, Psychotherapy, and Art therapy, University Hospital Toulouse (CHU Toulouse), Toulouse, France.

Introduction: Hyperammonemic encephalopathy (HAE) is a serious adverse effect of valproate semisodium, which is facilitated by the potential for drug interaction. However, despite frequent co-prescription of valproate semisodium and lithium, the role of this combination in the occurrence of HAE has not been defined in the literature. This case report concerns the occurrence of HAE concomitant with the initiation of lithium in a 29-year-old patient who had been placed on valproate semisodium for a schizoaffective disorder. Read More

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Thymol ameliorated neurotoxicity and cognitive deterioration in a thioacetamide-induced hepatic encephalopathy rat model; involvement of the BDNF/CREB signaling pathway.

Food Funct 2022 May 18. Epub 2022 May 18.

Department of Pathology, Faculty of Veterinary Medicine, Cairo University, Giza, Egypt.

In the present study, we aimed to delineate the neuroprotective potential of thymol (THY) against neurotoxicity and cognitive deterioration induced by thioacetamide (TAA) in an experimental model of hepatic encephalopathy (HE). Rats received TAA (100 mg kg, intraperitoneally injected, three times per week) for two weeks. THY (30 and 60 mg kg), and Vit E (100 mg k) were administered daily by oral gavage for 30 days after HE induction. Read More

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Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Front Pediatr 2022 28;10:825515. Epub 2022 Apr 28.

Department of Pediatrics, XiJing Hospital, Fourth Military Medical University, Xi'an, China.

Background: Pyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (PC) gene was identified to be the disease-causing gene for PCD. A novel homozygous splice variant in the PC gene was identified in a Chinese boy, but the pathogenicity is still unclear. Read More

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Epidemiology, Clinical Presentation and Treatment of Non-Hepatic Hyperammonemia in ICU COVID-19 Patients.

J Clin Med 2022 May 5;11(9). Epub 2022 May 5.

UOC Resuscitation, Intensive and Sub-Intensive Care, National Institute for Infectious Diseases IRCCS Lazzaro Spallanzani, Via Portuense, 292, 00149 Rome, Italy.

(1) Background: Although COVID-19 is largely a respiratory disease, it is actually a systemic disease that has a wide range of effects that are not yet fully known. The aim of this study was to determine the incidence, predictors and outcome of non-hepatic hyperammonemia (NHH) in COVID-19 in intensive care unit (ICU); (2) Methods: This is a 3-month prospective observational study in a third-level COVID-19 hospital. The authors collected demographic, clinical, severity score and outcome data. Read More

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Management of Hepatic Encephalopathy Associated with Advanced Liver Disease.

Clin Drug Investig 2022 May 10. Epub 2022 May 10.

Department of Digestive Diseases, Gregorio Marañon University General Hospital, 28007, Madrid, Spain.

Hepatic encephalopathy (HE) is a very prevalent condition in patients with advanced liver disease and has a high recurrence rate. The pathophysiology has a multifactorial origin where hyperammonaemia and inflammation become particularly relevant. There are no HE-specific diagnostic tests, and diagnosis is usually made by taking into account the presence of suggestive and compatible clinical symptoms, the existence of a predisposing liver condition and ruling out other causes with similar clinical manifestations. Read More

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Tropical Fever: Unveiling an Asymptomatic Case of Polycythemia Vera.

Indian J Crit Care Med 2022 Mar;26(3):387-389

Department of General Medicine, Shri Ram Murti Smarak Institute of Medical Sciences, Bareilly, Uttar Pradesh, India.

We report a case of fulminant hepatic failure due to the Budd-Chiari syndrome following preservation with a tropical fever. A young lady came with fever, altered mental status, jaundice, and renal failure. Following tropical workup, it was diagnosed as a case of leptospirosis (WHO Faine's criteria) with multi-organ dysfunction. Read More

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Editorial: Brain-Liver Axis and Glutamate Homeostasis.

Front Neurosci 2022 20;16:879227. Epub 2022 Apr 20.

Laboratorio de Neurotoxicología, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (Cinvestav-IPN), Mexico City, Mexico.

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Survival benefit of L-carnitine supplementation in patients with cirrhosis.

JPEN J Parenter Enteral Nutr 2022 May 5. Epub 2022 May 5.

Department of Gastroenterology/Internal Medicine, Gifu University Graduate School of Medicine, Gifu, Japan.

Background: L-carnitine supplementation is effective in improving muscle cramps, hyperammonemia, and hepatic encephalopathy in patients with cirrhosis. However, limited evidence is available on the effect of L-carnitine supplementation on the survival of patients with cirrhosis.

Methods: In this retrospective study, 674 patients with cirrhosis admitted to Gifu University Hospital or Chuno Kosei Hospital between October 2011 and December 2018 were enrolled. Read More

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Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.

Mol Biol Rep 2022 May 3. Epub 2022 May 3.

School of Biotechnology, Kalinga Institute of Industrial Technology, KIIT Deemed to be University, Bhubaneswar, Odisha, India.

Background: Arginase enzyme is essential for the catalysis of the last step of the urea cycle, resulting in the conversion of L-arginine to L-ornithine and urea. Arginase deficiency could lead to hyperarginemia, an autosomal recessive disorder of the urea cycle that could result in developmental manifestations after the first year of life, followed by gradually progressive atonic cerebral palsy, spastic quadriplegia, and mental decline. ARG1 mutations have been reported in hyperarginemia patients of Western countries because they exhibited reduced arginase activity. Read More

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Adult-onset noncirrhotic hyperammonemic encephalopathy probably caused by splenorenal shunts.

Clin Case Rep 2022 Apr 25;10(4):e05774. Epub 2022 Apr 25.

Department of Emergency and Critical Care Medicine Yokohama City Minato Red Cross Hospital Yokohama Japan.

This case illustrates adult-onset noncirrhotic hyperammonemic encephalopathy, which is most likely caused by splenorenal shunts and is a rare but potentially fatal cause of altered mentation in the critical care setting. Splenorenal shunts should be considered as a differential in cases of hyperammonemic encephalopathy without liver cirrhosis. Read More

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Toxic benzyl alcohol inhalation: Altered mental status with metabolic acidosis and hyperammonemia.

Am J Emerg Med 2022 Apr 11. Epub 2022 Apr 11.

Emergency Department, Japanese Red Cross Society Aichi Medical Center Nagoya Daini Hospital, Nagoya Daini Red Cross Hospital, 2-9 Myoken-Cho, Showa-Ku, Nagoya City, Aichi, Japan.

This report presents the case of a patient whose inhalation exposure to benzyl alcohol led to clinical manifestations similar to toluene intoxication, including sudden altered mental status, metabolic acidosis, hypokalemia, hypophosphatemia, and hyperammonemia. Toxicity from benzyl alcohol inhalation is quite rare, and hyperammonemia associated with renal tubular dysfunction in poisoning cases has not been reported in the past. Read More

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Long Noncoding RNAs Regulate Hyperammonemia-Induced Neuronal Damage in Hepatic Encephalopathy.

Oxid Med Cell Longev 2022 21;2022:7628522. Epub 2022 Feb 21.

Department of Anatomy, Chonnam National University Medical School, Hwasun, Jeollanam-do, Republic of Korea.

Background: Hyperammonemia can result in various neuropathologies, including sleep disturbance, memory loss, and motor dysfunction in hepatic encephalopathy. Long noncoding RNA (lncRNA) as a group of noncoding RNA longer than 200 nucleotides is emerging as a promising therapeutic target to treat diverse diseases. Although lncRNAs have been linked to the pathogenesis of various diseases, their function in hepatic encephalopathy has not yet been elucidated. Read More

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Undifferentiated non-hepatic hyperammonemia in the ICU: Diagnosis and management.

J Crit Care 2022 Apr 18;70:154042. Epub 2022 Apr 18.

Department of Anesthesiology, University of Minnesota Medical School, Departments of Anesthesiology & Medicine, University of Wisconsin Hospitals and Clinics, Madison, WI, United States of America.

Hyperammonemia occurs frequently in the critically ill but is largely confined to patients with hepatic dysfunction or failure. Non-hepatic hyperammonemia (NHHA) is far less common but can be a harbinger of life-threatening diagnoses that warrant timely identification and, sometimes, empiric therapy to prevent seizures, status epilepticus, cerebral edema, coma and death; in children, permanent cognitive impairment can result. Subsets of patients are at particular risk for developing NHHA, including the organ transplant recipient. Read More

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Presentation, Management and Outcome of Congenital Portosystemic Shunts in Children: The Boston Children's Hospital Experience.

J Pediatr Gastroenterol Nutr 2022 Apr 20. Epub 2022 Apr 20.

Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

Objectives: Congenital portosystemic shunts (CPSS) are rare vascular malformations. We describe presentations, complications, associations, and outcomes of CPSS at Boston Children's Hospital (BCH).

Methods: This was a retrospective review of children with CPSS at BCH from 2000-2020. Read More

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Ammonia induces amyloidogenesis in astrocytes by promoting amyloid precursor protein translocation into the endoplasmic reticulum.

J Biol Chem 2022 Apr 12;298(5):101933. Epub 2022 Apr 12.

Division of Oral Biochemistry, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan. Electronic address:

Hyperammonemia is known to cause various neurological dysfunctions such as seizures and cognitive impairment. Several studies have suggested that hyperammonemia may also be linked to the development of Alzheimer's disease (AD). However, the direct evidence for a role of ammonia in the pathophysiology of AD remains to be discovered. Read More

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Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood.

Anal Chim Acta 2022 May 29;1205:339782. Epub 2022 Mar 29.

Group of Sensors and Biosensors, Department of Chemistry, Autonomous University of Barcelona, Edifici Cn, 08193, Bellaterra, Barcelona, Spain. Electronic address:

Some inborn errors of metabolism and other diseases can result in increasing blood ammonium (hyperammonemia episodes), which can cause serious neurological complications in patients or even death. Early diagnosis, follow up and treatment are essential to minimize irreversible damages in brain. Currently, adequate analytical instrumentation for the necessary ammonium bedside determination is not available in all health centers but only in clinical laboratories of reference hospitals. Read More

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Myosteatosis in Cirrhosis: A Review of Diagnosis, Pathophysiological Mechanisms and Potential Interventions.

Cells 2022 04 4;11(7). Epub 2022 Apr 4.

Division of Gastroenterology & Liver Unit, University of Alberta, Edmonton, AB T6G 2X8, Canada.

Myosteatosis, or pathological excess fat accumulation in muscle, has been widely defined as a lower mean skeletal muscle radiodensity on computed tomography (CT). It is reported in more than half of patients with cirrhosis, and preliminary studies have shown a possible association with reduced survival and increased risk of portal hypertension complications. Despite the clinical implications in cirrhosis, a standardized definition for myosteatosis has not yet been established. Read More

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Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Neurogenetics 2022 Apr 9. Epub 2022 Apr 9.

Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.

The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients. Read More

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Hyperammonemia Alters the Function of AMPA and NMDA Receptors in Hippocampus: Extracellular cGMP Reverses Some of These Alterations.

Neurochem Res 2022 Apr 6. Epub 2022 Apr 6.

Anatomy and Human Embryology Department, Faculty of Medicine, University of Valencia, 46010, Valencia, Spain.

Chronic hyperammonemia alters membrane expression of AMPA and NMDA receptors subunits in hippocampus leading to impaired memory and learning. Increasing extracellular cGMP normalizes these alterations. However, it has not been studied whether hyperammonemia alters the function of AMPA and NMDA receptors. Read More

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Association Between Continuous Kidney Replacement Therapy Clearance and Outcome in Pediatric Patients With Hyperammonemia Not Due to Inborn Error of Metabolism.

Pediatr Crit Care Med 2022 Apr 5. Epub 2022 Apr 5.

Division of Pediatric Nephrology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN.

Objectives: To describe a single-center experience of pediatric patients with hyperammonemia not due to inborn errors of metabolism and determine the association between use of continuous kidney replacement therapy (CKRT) treatment and outcomes.

Design: Retrospective cohort study.

Setting: Tertiary-care children's hospital. Read More

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Ammonia Scavenger Restores Liver and Muscle Injury in a Mouse Model of Non-alcoholic Steatohepatitis With Sarcopenic Obesity.

Front Nutr 2022 17;9:808497. Epub 2022 Mar 17.

Department of Gastroenterology, Center for Fatty Liver, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Recent studies have revealed that sarcopenia is closely associated with obesity and non-alcoholic steatohepatitis (NASH). However, few attempted to explore the cause-and-effect relationship between sarcopenic obesity and NASH. In this study, we investigated muscular alterations in a rodent NASH model to elucidate their intrinsic relations and explore the potential therapeutic target. Read More

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Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.

J Pediatr 2022 Mar 28. Epub 2022 Mar 28.

Division of Pediatric Nephrology, Department of Pediatrics, University of Michigan Health System, Ann Arbor, MI.

Objective: To assess the outcomes of neonates in a contemporary multi-institutional cohort who receive renal replacement therapy (RRT) for hyperammonemia.

Study Design: We performed a retrospective analysis of 51 neonatal patients with confirmed inborn errors of metabolism that were treated at 9 different children's hospitals in the US between 2000 and 2015.

Results: Twenty-nine patients received hemodialysis (57%), 21 patients received continuous renal replacement therapy (41%), and 1 patient received peritoneal dialysis (2%). Read More

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Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.

BMC Gastroenterol 2022 Mar 28;22(1):144. Epub 2022 Mar 28.

Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.

Background: Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis. Corticosteroid administration to UCD patients, including OTCD patients, is suggested to be avoided, as it may induce life-threatening hyperammonemia. The mechanism has been considered nitrogen overload due to the catabolic effect of corticosteroids; however, the pathophysiological process is unclear. Read More

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Valproate-Associated Hyperammonaemic Encephalopathy.

Acute Med 2022 ;21(1):43-46

Consultant in Acute and General Medicine, East Surrey Hospital.

We present the case of a 55 year old who presented multiple times with altered conscious levels. He was often treated as being post-ictal, when in fact, he had Sodium Valproate induced hyperammonaemic encephalopathy. Sodium Valproate can frequently increase ammonia levels, and in some patient lead to hyperammonaemic encephalopathy. Read More

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Gastric bypass surgery contributing to hyperammonaemic encephalopathy: an under-reported cause of severe nutritional deficiency and significant patient mortality.

Acute Med 2022 ;21(1):34-42

Department of Gastroenterology and Hepatology, Southmead Hospital, North Bristol NHS Trust, Bristol, BS10 5NB.

Gastric-bypass associated hyperammonaemia (GaBHA) is an under-recognised cause of non-hepatic encephalopathy that is associated with significant mortality and has limited reporting in published literature. GaBHA has been reported predominately in middle-aged females with a past surgical history of Roux-En-Y surgical procedure. Individuals may present at any stage post-surgery and an important minority may have an undiagnosed inherited metabolic disorder. Read More

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Diazoxide-Induced Neutropenia and Long-Term Follow-up in a Patient with Hyperinsulinemia-Hyperammonemia due to GLUD1 Mutation.

Acta Endocrinol (Buchar) 2021 Jul-Sep;17(3):383-387

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey.

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 gene, and causes fasting as well as protein sensitive symptomatic hypoglycemia, in addition to persistently elevated plasma ammonia levels. First-line treatment is diazoxide, and most patients respond well to this agent, however side effects may be observed. The most frequent side effect of diazoxide is fluid retention and hypertrichosis, while hyperuricemia and hematologic side effects are observed less often. Read More

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New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.

Brain Sci 2022 Mar 15;12(3). Epub 2022 Mar 15.

Division of Endocrinology, Diabetes, Hypertension and Therapeutic Patient Education, Geneva University Hospitals, University of Geneva, 1205 Geneva, Switzerland.

Hyperinsulinism/hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder caused by monoallelic activating mutations in the glutamate dehydrogenase 1 () gene. While hyperinsulinism may be explained by a reduction in the allosteric inhibition of , the pathogenesis of HA in HI/HA remains uncertain; interestingly, HA in the HI/HA syndrome is not associated with acute hyperammonemic intoxication events. We obtained a brain magnetic resonance (MR) in a woman with HI/HA syndrome with chronic asymptomatic HA. Read More

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Hyperammonemia Enhances GABAergic Neurotransmission in Hippocampus: Underlying Mechanisms and Modulation by Extracellular cGMP.

Mol Neurobiol 2022 Mar 23. Epub 2022 Mar 23.

Laboratory of Neurobiology, Centro de Investigación Príncipe Felipe, 46012, Valencia, Spain.

Rats with chronic hyperammonemia reproduce the cognitive and motor impairment present in patients with hepatic encephalopathy. It has been proposed that enhanced GABAergic neurotransmission in hippocampus may contribute to impaired learning and memory in hyperammonemic rats. However, there are no direct evidences of the effects of hyperammonemia on GABAergic neurotransmission in hippocampus or on the underlying mechanisms. Read More

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