4,005 results match your criteria Hyperammonemia


Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children.

Children (Basel) 2019 Apr 4;6(4). Epub 2019 Apr 4.

Department of Pediatric Intensive Care Unit, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Fatih, Istanbul 34098, Turkey.

: Peritoneal dialysis and continuous renal replacement therapy (CRRT) are the most frequently used treatment modalities for acute kidney injury. CRRT is currently being used for the treatment of several non-renal indications, such as congenital metabolic diseases. CRRT can efficiently remove toxic metabolites and reverse the neurological symptoms quickly. Read More

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http://dx.doi.org/10.3390/children6040053DOI Listing
April 2019
1 Read

Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision.

J Inherit Metab Dis 2019 Apr 14. Epub 2019 Apr 14.

Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

In 2012 we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35,000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability or death, even while effective therapies do exist. In the 7 years that have elapsed since the first guideline was published, abundant novel information has accumulated, experience on newborn screening for some UCDs has widened, a novel hyperammonemia-causing genetic disorder has been reported, glycerol phenylbutyrate has been introduced as a treatment, and novel promising therapeutic avenues (including gene therapy) have been opened. Read More

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http://dx.doi.org/10.1002/jimd.12100DOI Listing
April 2019
2 Reads

Cerebellar inhibition in hepatic encephalopathy.

Clin Neurophysiol 2019 Mar 30;130(6):886-892. Epub 2019 Mar 30.

Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University Düsseldorf, Germany; Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Germany. Electronic address:

Objective: Previous animal work reported that hyperammonemia leads to opposing changes of GABAergic neurotransmission in terms of increase in the cerebellum and decrease in the cerebral cortex. In this study, we investigate GABAergic tone in the cerebellum in patients with hepatic encephalopathy (HE) at different stages of the disease and its relation to critical flicker frequency (CFF) and ataxia.

Methods: Cerebellar inhibition using transcranial magnetic stimulation was investigated in 15 patients with different stages of HE and 15 healthy controls. Read More

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http://dx.doi.org/10.1016/j.clinph.2019.02.020DOI Listing
March 2019
1 Read

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Cancer Med 2019 Apr 11. Epub 2019 Apr 11.

Department of Biochemistry, Stanford University, Stanford, California.

Background: Cancer patients receiving chemotherapy often complain of "chemobrain" or cognitive impairment, but mechanisms remain elusive.

Methods: A patient with gastric cancer developed delirium and hyperammonemia after chemotherapy with the 5-fluorouracil pro-drug capecitabine. Exome sequencing facilitated a search for mutations among 43 genes associated with hyperammonemia and affecting the urea cycle directly or indirectly. Read More

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http://dx.doi.org/10.1002/cam4.2036DOI Listing
April 2019
1 Read

Kidney disease and organ transplantation in methylmalonic acidaemia.

Pediatr Transplant 2019 Apr 11:e13407. Epub 2019 Apr 11.

Department of Paediatrics, Western University, London, Ontario, Canada.

Objectives: MMA is associated with chronic tubulointerstitial nephritis and a progressive decline in GFR. Optimal management of these children is uncertain. Our objectives were to document the pre-, peri-, and post-transplant course of all children with MMA who underwent liver or combined liver-kidney transplant in our centers. Read More

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http://dx.doi.org/10.1111/petr.13407DOI Listing
April 2019
1 Read

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

Brain Dev 2019 Apr 5. Epub 2019 Apr 5.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea. Electronic address:

Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of anti-NMDAR encephalitis; this patient showed subsequent recurrent, unexplained episodes of encephalopathy associated with hyperammonemia. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.03.013DOI Listing
April 2019
2 Reads

Intravenous use of valproic acid in status epilepticus is associated with high risk of hyperammonemia.

Seizure 2019 Mar 28;69:20-24. Epub 2019 Mar 28.

Department of Perioperative and Intensive Care, County Hospital Ryhov, Jönköping, Sweden.

Purpose: The aim of the study was to examine the frequency of hyperammonemia secondary to valproic acid treatment in status epilepticus and to describe the characteristics of the patients.

Methods: All patients with established status epilepticus during 2014 to 2016 at Ryhov County Hospital were identified in a retrospective case series. Clinical and laboratory findings were collected from electronic medical files and the Metavision database at the intensive care unit (ICU). Read More

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http://dx.doi.org/10.1016/j.seizure.2019.03.020DOI Listing
March 2019
1 Read

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Am J Med Genet A 2019 Apr 4. Epub 2019 Apr 4.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Respiratory chain disorders comprise a heterogeneous group of diseases that are the result of mutations in nuclear or mitochondrial genes. TMEM70 encodes a nuclear protein involved in the assembly of respiratory chain complex V. Although mutations in various genes can result in isolated complex V deficiency; TMEM70 mutations represent the most common reported etiology. Read More

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http://dx.doi.org/10.1002/ajmg.a.61138DOI Listing
April 2019
4 Reads

Challenges in diagnosing and managing adult patients with Urea Cycle Disorders.

J Inherit Metab Dis 2019 Apr 1. Epub 2019 Apr 1.

National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin 7, Ireland.

Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification pathway. The presentation of these disorders ranges from life-threatening intoxication in the neonate to asymptomatic status in adults. Late-onset UCDs can present for the first time in adulthood and may mimic other causes of acute confusion or psychiatric diseases, and are often associated with neurological symptoms. Read More

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http://dx.doi.org/10.1002/jimd.12096DOI Listing
April 2019
3 Reads

Reduced Liver Lipid Peroxidation in Subcellular Fractions Is Associated with a Hypometabolic State in Rats with Portacaval Anastomosis.

Oxid Med Cell Longev 2019 21;2019:4565238. Epub 2019 Feb 21.

Cellular and Molecular Department, Neurobiology Institute, Campus UNAM-Juriquilla, Querétaro 76230, Mexico.

A surgical connection between portal and inferior cava veins was performed to generate an experimental model of high circulating ammonium and hepatic hypofunctioning. After 13 weeks of portacaval anastomosis (PCA), hyperammonemia and shrinkage in the liver were observed. Low glycemic levels accompanied by elevated levels of serum alanine aminotransferase were recorded. Read More

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https://www.hindawi.com/journals/omcl/2019/4565238/
Publisher Site
http://dx.doi.org/10.1155/2019/4565238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409024PMC
April 2019
2 Reads

Hyperammonaemia following exercise may also reveal PGK1 deficiency.

J Clin Pathol 2019 Mar 27. Epub 2019 Mar 27.

Paris-Est Neuromuscular Center, Institute of Myology, University Hospital Pitié Salpêtrière, Paris, France.

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http://dx.doi.org/10.1136/jclinpath-2019-205750DOI Listing

Efficacy of orally administered sodium benzoate and sodium phenylbutyrate in dogs with congenital portosystemic shunts.

J Vet Intern Med 2019 Mar 27. Epub 2019 Mar 27.

Pharmacy Department, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

Background: Hyperammonemia can result in hepatic encephalopathy, which in severe cases eventually can lead to coma and death. In dogs, congenital portosystemic shunts (CPSS) are the most common cause for hyperammonemia. Conservative treatment consists of a protein modified diet, nonabsorbable disaccharides, antibiotics, or some combinations of these. Read More

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http://dx.doi.org/10.1111/jvim.15477DOI Listing

[A Case of Chemotherapy-Induced Hyperammonemic Encephalopathy in a Patient with Metastatic Colon Cancer].

Gan To Kagaku Ryoho 2019 Feb;46(2):259-262

Multidisciplinary Treatment Cancer Center, Kurume University Hospital.

A 70-year-old man was diagnosed with colon cancer with multiple liver metastases.He was administered modified FOLFOX6 plus panitumumab as first-line chemotherapy.He showed consciousness disturbance on the 3rd day during the 8 cycle and was hospitalized urgently. Read More

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February 2019
3 Reads

[Successful management of hyperammonemia syndrome in a patient after skin transplantation: a case report and a literature review on 41 patients].

Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 2019 Mar;31(3):367-370

Department of Organ Transplantation, Tianjin First Center Hospital, Tianjin 300192, China. Corresponding author: Shen Zhongyang, Email:

Objective: Hyperammonemia syndrome (HS) is a comparatively rare but often fatal clinical syndrome characterized by progressive respiratory alkalosis and abrupt mental status alteration associated with markedly elevated plasma ammonium levels. Although the exact mechanism of HS remains unclear, infection with urease producing microbes is proposed as the main etiology of HS recently. A patient with HS after repeated autologous skin transplantation was admitted to Tianjin First Center Hospital in March 2018, presented with fever, coma and epilepsy. Read More

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http://dx.doi.org/10.3760/cma.j.issn.2095-4352.2019.03.022DOI Listing
March 2019
1 Read

Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.

J Inherit Metab Dis 2019 Mar 25. Epub 2019 Mar 25.

Service of Clinical Chemistry, Lausanne University Hospital and University of Lausanne, Switzerland.

The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker argininosuccinic acid (ASA) elevated in body fluids. Remarkably, even without ever suffering from hyperammonemia, patients often develop severe cognitive impairment and seizures. The goal of this study was to understand the effect on the known toxic metabolite ASA and the assumed toxic metabolite guanidinosuccinic acid (GSA) on developing brain cells, and to evaluate the potential role of creatine (Cr) supplementation, as it was described protective for brain cells exposed to ammonia. Read More

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http://dx.doi.org/10.1002/jimd.12090DOI Listing
March 2019
1 Read

Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.

Eur J Pediatr 2019 Mar 20. Epub 2019 Mar 20.

Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Gazi Yaşargil Training and Research Hospital, Diyarbakir, Turkey.

Several recent studies have reported that toxic metabolites accumulated in the body as a product of inborn errors of metabolism (IEM) are eliminated more rapidly with continuous venovenous hemodiafiltration (CVVHDF) than with peritoneal dialysis (PD). However, there is still uncertainty about the impacts of dialysis modalities on the short-term outcome. Here, it was aimed to investigate the effects of dialysis modalities on the short-term outcome. Read More

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http://dx.doi.org/10.1007/s00431-019-03361-4DOI Listing
March 2019
2 Reads

Ethanol sensitizes skeletal muscle to ammonia-induced molecular perturbations.

J Biol Chem 2019 Mar 14. Epub 2019 Mar 14.

Gastroenterology, Hepatology and Pathobiology, Cleveland Clinic, United States.

Ethanol causes dysregulated muscle protein homeostasis while simultaneously causing hepatocyte injury. Since hepatocytes are the primary site for physiological disposal of ammonia, a cytotoxic cellular metabolite generated during a number of metabolic processes, we determined if hyperammonemia aggravates ethanol-induced muscle loss. Differentiated murine C2C12 myotubes, skeletal muscle from pair-fed or ethanol-treated mice and human patients with alcoholic cirrhosis and healthy controls were used to quantify protein synthesis, mTORC1 signaling and autophagy makers. Read More

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http://dx.doi.org/10.1074/jbc.RA118.005411DOI Listing
March 2019
1 Read

Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.

Sci Rep 2019 Mar 12;9(1):4179. Epub 2019 Mar 12.

Citrin Foundation, Singapore, Singapore.

Previous studies using citrin/mitochondrial glycerol-3-phosphate (G3P) dehydrogenase (mGPD) double-knockout mice have demonstrated that increased dietary protein reduces the extent of carbohydrate-induced hyperammonemia observed in these mice. This study aimed to further elucidate the mechanisms of this effect. Specific amino acids were initially found to decrease hepatic G3P, or increase aspartate or citrulline levels, in mGPD-knockout mice administered ethanol. Read More

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http://dx.doi.org/10.1038/s41598-019-39627-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414645PMC
March 2019
1 Read

Taurine transporter (TauT) deficiency impairs ammonia detoxification in mouse liver.

Proc Natl Acad Sci U S A 2019 Mar 12;116(13):6313-6318. Epub 2019 Mar 12.

Clinic for Gastroenterology, Hepatology and Infectious Diseases, Heinrich Heine University, 40225 Düsseldorf, Germany;

Hepatic ammonia handling was analyzed in taurine transporter (TauT) KO mice. Surprisingly, hyperammonemia was present at an age of 3 and 12 months despite normal tissue integrity. This was accompanied by cerebral RNA oxidation. Read More

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http://dx.doi.org/10.1073/pnas.1813100116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442586PMC
March 2019
2 Reads

Differential ammonia metabolism and toxicity between avian and mammalian species, and effect of ammonia on skeletal muscle: A comparative review.

J Anim Physiol Anim Nutr (Berl) 2019 Mar 12. Epub 2019 Mar 12.

Prestage Department of Poultry Science, North Carolina State University, Raleigh, North Carolina.

Comparative aspects of ammonia toxicity, specific to liver and skeletal muscle and skeletal muscle metabolism between avian and mammalian species are discussed in the context of models for liver disease and subsequent skeletal muscle wasting. The purpose of this review is to present species differences in ammonia metabolism and to specifically highlight observed differences in skeletal muscle response to excess ammonia in avian species. Ammonia, which is produced during protein catabolism and is an essential component of nucleic acid and protein biosynthesis, is detoxified mainly in the liver. Read More

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http://dx.doi.org/10.1111/jpn.13080DOI Listing
March 2019
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Levocarnitine Use Is Associated With Improvement in Sarcopenia in Patients With Liver Cirrhosis.

Hepatol Commun 2019 Mar 22;3(3):348-355. Epub 2019 Jan 22.

Department of Gastroenterology and Metabolism, Applied Life Sciences Institute of Biomedical and Health Sciences, Hiroshima University Hiroshima Japan.

Although the effect of levocarnitine (L-carnitine) on hyperammonemia has been reported in patients with liver cirrhosis (LC), its effect on sarcopenia remains to be elucidated. We assessed the effects of L-carnitine on sarcopenia in patients with LC. We retrospectively evaluated 52 patients with LC who were treated with L-carnitine for more than 3 months between February 2013 and June 2017. Read More

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http://dx.doi.org/10.1002/hep4.1309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396356PMC

Bicuculline Reduces Neuroinflammation in Hippocampus and Improves Spatial Learning and Anxiety in Hyperammonemic Rats. Role of Glutamate Receptors.

Front Pharmacol 2019 25;10:132. Epub 2019 Feb 25.

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

Patients with liver cirrhosis may develop minimal hepatic encephalopathy (MHE) with mild cognitive impairment. Hyperammonemia is a main contributor to cognitive impairment in MHE, which is mediated by neuroinflammation. GABAergic neurotransmission is altered in hyperammonemic rats. Read More

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http://dx.doi.org/10.3389/fphar.2019.00132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397886PMC
February 2019
3 Reads

Effects of sulforaphane in the central nervous system.

Eur J Pharmacol 2019 Mar 8;853:153-168. Epub 2019 Mar 8.

Invasive Technology Department, Nantong First People's Hospital, the Second Affiliated Hospital of Nantong University, #6 North Road Hai'er Xiang, Nantong 226001, Jiangsu, China. Electronic address:

Sulforaphane (SFN) is an active component extracted from vegetables like cauliflower and broccoli. Activation of the nuclear factor (erythroid-derived 2)-like 2 (Nrf2) signaling is a common mechanism for the anti-oxidative and anti-inflammatory activity of some herb-derived compounds, such as icariin and berberine. However, due to its peculiar ability in Nrf2 activation, SFN is recognized as an activator of Nrf2 and recommended as a supplementation for prevention and/or treatment of disorders like neoplasm and heart failure. Read More

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http://dx.doi.org/10.1016/j.ejphar.2019.03.010DOI Listing
March 2019
2.532 Impact Factor

Chemical exchange saturation transfer imaging in hepatic encephalopathy.

Neuroimage Clin 2019 Mar 4;22:101743. Epub 2019 Mar 4.

Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University Düsseldorf, Germany.

Hepatic encephalopathy (HE) is a common complication in liver cirrhosis and associated with an invasion of ammonia into the brain through the blood-brain barrier. Resulting higher ammonia concentrations in the brain are suggested to lead to a dose-dependent gradual increase of HE severity and an associated impairment of brain function. Amide proton transfer-weighted (APT) chemical exchange saturation transfer (CEST) imaging has been found to be sensitive to ammonia concentration. Read More

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http://dx.doi.org/10.1016/j.nicl.2019.101743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411782PMC
March 2019
7 Reads

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Front Neurol 2019 22;10:131. Epub 2019 Feb 22.

Medical Genetics Unit, S. Orsola-Malpighi Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Hereditary Spastic Paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by a progressive rigidity and weakness of the lower limbs, caused by pyramidal tract lesions. As of today, 80 different forms of HSP have been mapped, 64 genes have been cloned, and new forms are constantly being described. HSPs represent an intensively studied field, and the functional understanding of the biochemical and molecular pathogenetic pathways are starting to be elucidated. Read More

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http://dx.doi.org/10.3389/fneur.2019.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395431PMC
February 2019
1 Read

Exchange-mode glutamine transport across CNS cell membranes.

Neuropharmacology 2019 Mar 8. Epub 2019 Mar 8.

Department of Neurotoxicology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego St 5, 02-106, Warsaw, Poland.

CNS cell membranes possess four transporters capable of exchanging Lglutamine (Gln) for other amino acids: the large neutral amino acid (LNAA) transporters LAT1 and LAT2, the hybrid basic amino acid (L-arginine (Arg), L-leucine (Leu)/LNAA transporter yLAT2, and the L-alanine/L-serine/L-cysteine transporter 2 (ASCT2). LAT1/LAT2 and yLAT2 are present in astrocytes, neurons and the blood brain barrier (BBB) - forming cerebral vascular endothelial cells (CVEC), while the location of ASCT2 in the individual cell types is a matter of debate. In the healthy brain, contribution of the exchangers to Gln shuttling from astrocytes to neurons and thus their role in controlling the conversion of Gln to the amino acid neurotransmitters l-glutamate (Glu) and γ-aminobutyric acid (GABA) and Gln flux across the BBB appears negligible as compared to the system A and system N uniporters. Read More

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http://dx.doi.org/10.1016/j.neuropharm.2019.03.003DOI Listing
March 2019
1 Read

Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.

Indian J Pediatr 2019 Mar 8. Epub 2019 Mar 8.

Department of Hepato-pancreato-biliary Surgery and Liver Transplantation, Apollo Hospitals, Navi Mumbai, India.

Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with Citrullinemia Type 1 at birth which was anticipated prenatally due to family history. His diagnosis was confirmed as a homozygous mutation (Exon 15: c. Read More

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http://dx.doi.org/10.1007/s12098-019-02905-8DOI Listing
March 2019
4 Reads

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.

J Inherit Metab Dis 2019 Mar 5. Epub 2019 Mar 5.

Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California.

The enzyme carbamoyl phosphate synthetase 1 (CPS1; EC 6.3.4. Read More

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http://dx.doi.org/10.1002/jimd.12048DOI Listing
March 2019
3 Reads

Peripheral inflammation induces neuroinflammation that alters neurotransmission and cognitive and motor function in hepatic encephalopathy: Underlying mechanisms and therapeutic implications.

Acta Physiol (Oxf) 2019 Mar 4:e13270. Epub 2019 Mar 4.

Laboratory of Neurobiology, Centro de Investigación Principe Felipe, Valencia, Spain.

Several million patients with liver cirrhosis suffer minimal hepatic encephalopathy (MHE), with mild cognitive and coordination impairments that reduce their quality of life and life span. Hyperammonaemia and peripheral inflammation act synergistically to induce these neurological alterations. We propose that MHE appearance is because of the changes in peripheral immune system, which are transmitted to brain, leading to neuroinflammation that alters neurotransmission leading to cognitive and motor alterations. Read More

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http://dx.doi.org/10.1111/apha.13270DOI Listing
March 2019
2 Reads

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 Feb 25. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

Background And Aim: Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and functional amino acids for growth is necessary. Optimal growth will result in improved protein tolerance and possibly a decrease in the number of decompensations. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
February 2019
3 Reads

Hepatic encephalopathy: Lessons from preclinical studies.

World J Hepatol 2019 Feb;11(2):173-185

Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, UFMG, Belo Horizonte, Minas Gerais 30130-100, Brasil.

Hepatic encephalopathy (HE) is a major complication that is closely related to the progression of end-stage liver disease. Metabolic changes in advanced liver failure can promote cognition impairment, attention deficits and motor dysfunction that may result in coma and death. HE can be subdivided according to the type of hepatic injury, namely, type A, which results from acute liver failure, type B, which is associated with a portosystemic shunting without intrinsic liver disease, and type C, which is due to chronic liver disease. Read More

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http://dx.doi.org/10.4254/wjh.v11.i2.173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393717PMC
February 2019
1 Read

Severe Encephalopathy, Lactic Acidosis and Hyperammonaemia With FOLFIRI Plus Aflibercept After Two-stage Hepatectomy: A Case Report.

In Vivo 2019 Mar-Apr;33(2):563-565

Department of Gastroenterological Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan

Background/aim: Recent advances in chemotherapy have increased the possibility of conversion hepatectomy for patients with initially unresectable liver metastases. Although long-term chemotherapy and subsequent extensive hepatectomy are becoming more common, the toxicities of such chemotherapies are unclear.

Patients And Methods: We present a case report of a patient with metastatic colorectal cancer who developed severe encephalopathy with lactic acidosis and hyperammonaemia caused by 5-fluorouracil-based chemotherapy. Read More

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http://dx.doi.org/10.21873/invivo.11511DOI Listing
November 2018

Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions.

Mitochondrion 2019 Feb 22. Epub 2019 Feb 22.

Amsterdam UMC, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, AG&M, Meibergdreef 69-71, 1105 BK Amsterdam, The Netherlands; Amsterdam UMC, University of Amsterdam, Surgical Laboratory, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

Hyperammonemia is an important contributing factor to hepatic encephalopathy in end-stage liver failure patients. Therefore reducing hyperammonemia is a requisite of bioartificial liver support (BAL). Ammonia elimination by human liver HepaRG cells occurs predominantly through reversible fixation into amino acids, whereas the irreversible conversion into urea is limited. Read More

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http://dx.doi.org/10.1016/j.mito.2019.02.005DOI Listing
February 2019
2 Reads

The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies.

Intern Med 2019 Feb 25. Epub 2019 Feb 25.

Departments of Hepatology, Toranomon Hospital, Japan.

Adult-onset type II citrullinemia (CTLN2) is a urea cycle disease characterized by neurological and psychiatric abnormalities associated with hyperammonemia. One of the pathological features of CTLN2 is the presence of hepatocyte steatosis. The condition progresses in almost all CTLN2 patients to nonalcoholic fatty liver disease (NAFLD). Read More

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http://dx.doi.org/10.2169/internalmedicine.2374-18DOI Listing
February 2019
1 Read

Efficacy of L-carnitine on ribavirin-induced hemolytic anemia in patients with hepatitis C virus infection.

Clin Mol Hepatol 2019 Mar 25;25(1):65-73. Epub 2019 Feb 25.

Division of Gastroenterology and Hepatology, Third Department of Internal Medicine, Nara Medical University, Nara, Japan.

Background/aims: L-carnitine not only alleviates hyperammonemia and reduces muscle cramps in patients with liver cirrhosis, but also improves anemia in patients with chronic hepatitis and renal dysfunction. This study prospectively evaluated the preventative efficacy of L-carnitine supplementation against hemolytic anemia during antiviral treatment using ribavirin in patients with hepatitis C virus (HCV)-related chronic liver disease.

Methods: A total of 41 patients with chronic hepatitis were consecutively enrolled in this study. Read More

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http://dx.doi.org/10.3350/cmh.2018.0070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435976PMC
March 2019
2 Reads

Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child.

J Pediatr Hematol Oncol 2019 Feb 15. Epub 2019 Feb 15.

Miller Children's and Women's Hospital Long Beach.

Idiopathic hyperammonemia is a rare, poorly understood, and often lethal condition that has been described in immunocompromised patients. This report describes an immunocompromised patient with acute myelogenous leukemia who developed persistent hyperammonemia up to 705 µmol/L (normal, 0 to 47 µmol/L) refractory to multiple different therapies. However, after beginning azithromycin and then doxycycline therapy for Ureaplasma species infection, the patient showed immediate and sustained clinical improvement and resolution of ammonia levels. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001414DOI Listing
February 2019

Bile Acids in Hepatic Encephalopathy.

Authors:
Sharon DeMorrow

J Clin Exp Hepatol 2019 Jan-Feb;9(1):117-124. Epub 2018 May 4.

Department of Medical Physiology, Texas A&M College of Medicine, Temple, TX 76504, USA.

Hepatic encephalopathy describes the array of neurological complications that arise due to liver insufficiency and/or portal-systemic shunt. The pathogenesis of hepatic encephalopathy shares a longstanding association with hyperammonemia and inflammation. Recently, aberrant bile acid signaling has been implicated in the development of key features of hepatic encephalopathy due to acute liver failure including neuronal dysfunction, neuroinflammation and blood-brain barrier permeability. Read More

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http://dx.doi.org/10.1016/j.jceh.2018.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363980PMC
May 2018
2 Reads

Hepatic Encephalopathy and Sarcopenia: Two Faces of the Same Metabolic Alteration.

J Clin Exp Hepatol 2019 Jan-Feb;9(1):125-130. Epub 2018 May 5.

Department of Clinical Medicine, Gastroenterology, Sapienza University of Rome, Italy.

Sarcopenia is an important burden in liver cirrhosis representing a negative prognostic factor for mortality. Moreover, sarcopenia is an independent predictor of complications in patients with liver cirrhosis, including Hepatic Encephalopathy (HE). An association between sarcopenia and HE in liver cirrhosis has been reported in recent studies, indeed both these complications often affect patients with advanced liver cirrhosis and may exert a synergic effect in deteriorating patients' outcome. Read More

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http://dx.doi.org/10.1016/j.jceh.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363954PMC
May 2018
1 Read

Influence of implementing a protocol for an intravenously administered ammonia scavenger on the management of acute hyperammonemia in a pediatric intensive care unit.

J Inherit Metab Dis 2019 Jan;42(1):77-85

Pediatric Intensive Care Unit, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada.

The purpose of the study was to evaluate the influence of establishing a protocol for the use of combined sodium benzoate and sodium phenylacetate (SBSP) (Ammonul®) to treat acute hyperammonemia. This was a retrospective, single-center study in a 24-bed medical and surgical pediatric intensive care unit (PICU) in a tertiary care teaching maternal-child hospital in Canada. Inclusion criteria were age < 18 years, PICU admission between 1 January 2000 and 30 June 2016, and SBSP treatment. Read More

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http://dx.doi.org/10.1002/jimd.12029DOI Listing
January 2019
3 Reads

Organic acid disorders.

Ann Transl Med 2018 Dec;6(24):472

Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA.

Organic acids (OAs) are intermediary products of several amino acid catabolism or degradation via multiple biochemical pathways for energy production. Vitamins or co-factors are often quintessential elements in such degradation pathways and OA metabolism. OAs that result from enzyme defects in these pathways can be identified in body fluids utilizing gas chromatography-mass spectrometry techniques (GC/MS). Read More

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http://dx.doi.org/10.21037/atm.2018.12.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331355PMC
December 2018
7 Reads

Matrine ameliorates anxiety and depression-like behaviour by targeting hyperammonemia-induced neuroinflammation and oxidative stress in CCl4 model of liver injury.

Neurotoxicology 2019 Feb 8;72:38-50. Epub 2019 Feb 8.

Department of Pharmacy, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan. Electronic address:

Acute or chronic liver injury is associated with hyperammonemia which induced neuroinflammation and oxidative stress in the brain. Neuroinflammation, oxidative stress, reduced neurogenesis, and apoptosis are critical factors for the development of anxiety and depression. The present study was aimed to evaluate the anxiolytic and antidepressant properties of matrine against acute liver injury in the rodent model. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0161813X183032
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http://dx.doi.org/10.1016/j.neuro.2019.02.002DOI Listing
February 2019
8 Reads
3.379 Impact Factor

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 Feb 8. Epub 2019 Feb 8.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. Read More

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
February 2019
6 Reads

Hepatic glutamine synthetase augmentation enhances ammonia detoxification.

J Inherit Metab Dis 2019 Feb 6. Epub 2019 Feb 6.

Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

The urea cycle and glutamine synthetase (GS) are the two main pathways for waste nitrogen removal and their deficiency results in hyperammonemia. Here, we investigated the efficacy of liver-specific GS overexpression for therapy of hyperammonemia. To achieve hepatic GS overexpression, we generated a helper-dependent adenoviral (HDAd) vector expressing the murine GS under the control of a liver-specific expression cassette (HDAd-GS). Read More

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http://dx.doi.org/10.1002/jimd.12070DOI Listing
February 2019
1 Read

Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences

Ir Med J 2019 01 15;112(1):858. Epub 2019 Jan 15.

National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin 1, Ireland

Hyperammonaemia is a metabolic disturbance characterized by accumulation of ammonia in the blood. Entry of ammonia into the brain via the blood-brain barrier leads to hyperammonaemic encephalopathy. The causes of hyperammonaemia in paediatric patients vary. Read More

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January 2019
7 Reads

Comprehensive characterization of ureagenesis in the spf mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.

J Inherit Metab Dis 2019 Feb 3. Epub 2019 Feb 3.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, Zurich, Switzerland.

The most common ureagenesis defect is X-linked ornithine transcarbamylase (OTC) deficiency which is a main target for novel therapeutic interventions. The spf mouse model carries a variant (c.386G>A, p. Read More

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http://dx.doi.org/10.1002/jimd.12068DOI Listing
February 2019
2 Reads

L-Ornithine L-Aspartate (LOLA) for the Treatment of Hepatic Encephalopathy in Cirrhosis: Novel Insights and Translation to the Clinic.

Drugs 2019 Feb;79(Suppl 1):1-3

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

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http://dx.doi.org/10.1007/s40265-018-1021-4DOI Listing
February 2019
1 Read

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia.

J Inherit Metab Dis 2019 Jan 22. Epub 2019 Jan 22.

Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

(Macro)autophagy/autophagy is a highly regulated lysosomal degradative process by which cells recycle their own nutrients, such as amino acids and other metabolites, to be reused in different biosynthetic pathways. Ammonia is a diffusible compound generated daily from catabolism of nitrogen-containing molecules and from gastrointestinal microbiome. Ammonia homeostasis is tightly controlled in humans and ammonia is efficiently converted by the healthy liver into non-toxic urea (through ureagenesis) and glutamine (through glutamine synthetase). Read More

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http://dx.doi.org/10.1002/jimd.12061DOI Listing
January 2019
1 Read

Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review.

Neurohospitalist 2019 Jan 26;9(1):30-36. Epub 2018 Mar 26.

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive disorder that usually presents in the neonatal period. Late-onset presentation of OTC can cause mild to severe symptoms. We describe laboratory and clinical findings of late-onset presentations of OTC deficiency. Read More

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http://journals.sagepub.com/doi/10.1177/1941874418764817
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http://dx.doi.org/10.1177/1941874418764817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327241PMC
January 2019
16 Reads