3,965 results match your criteria Hyperammonemia


Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.

Expert Rev Endocrinol Metab 2012 May;7(3):263-271

a University Children's Hospital, Division of Metabolism, Children's Research Center, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

Carglumic acid is a structural analog and the first registered synthetic form of the naturally occurring allosteric activator of the urea cycle, N-acetylglutamate (NAG), which is the product of the enzyme NAG synthase (NAGS). Because NAG is essential for the function of carbamoylphosphate synthetase 1 as the first step of the urea cycle, a decreased availability of NAG due to primary or secondary defects of NAGS will affect ammonia detoxification in the urea cycle. Carglumic acid (Carbaglu®, Orphan Europe SARL, Paris, France) is approved for the acute and long-term treatment of primary defects of NAGS in Europe and the USA. Read More

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http://dx.doi.org/10.1586/eem.12.17DOI Listing

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

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
1 Read

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
2 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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http://dx.doi.org/10.1016/j.neuro.2019.02.002DOI Listing
February 2019
3.379 Impact Factor

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders.

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

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

Introduction: 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.

Method: 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
1 Read

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

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
2 Reads

Comprehensive characterization of ureagenesis in the spf mouse, a model of human OTC 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 Centre (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

Prognostic Role of Ammonia in Cirrhotic Patients.

Hepatology 2019 Jan 31. Epub 2019 Jan 31.

Liver Failure Group, UCL Institute for Liver and Digestive Health, Division of Medicine, UCL Medical School, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.

Ammonia is thought to be central to the pathogenesis of hepatic encephalopathy (HE), but its prognostic role in cirrhotic patients with acute decompensation (AD) is unknown. The aims of this study were to determine the relationship between ammonia levels and severity of HE, association with organ dysfunction and short-term mortality. We identified 498 patients from two institutions as part of prospective observational studies in cirrhotic patients. Read More

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http://dx.doi.org/10.1002/hep.30534DOI Listing
January 2019
2 Reads

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
3 Reads

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.

Bol Med Hosp Infant Mex 2019 ;76(1):49-53

School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, United Kingdom.

Background: Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder. Read More

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http://www.bmhim.com/files/bmhi_2019_1_49-53.pdf
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http://dx.doi.org/10.24875/BMHIM.18000099DOI Listing
January 2019
6 Reads

Chronic hyperammonemia induces peripheral inflammation that leads to cognitive impairment in rats: reversal by anti-tnfa treatment.

J Hepatol 2019 Jan 14. Epub 2019 Jan 14.

Laboratory of Neurobiology, Centro Investigación Príncipe Felipe, Valencia, Spain. Electronic address:

Background & Aims: Chronic hyperammonemia induces neuroinflammation which mediates cognitive impairment. How hyperammonemia induces neuroinflammation remains unclear. We propose the hypothesis that chronic hyperammonemia would induce peripheral inflammation that would induce neuroinflammation and cognitive impairment, which would be prevented by reducing peripheral inflammation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01688278193001
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http://dx.doi.org/10.1016/j.jhep.2019.01.008DOI Listing
January 2019
6 Reads

Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation.

Exp Neurol 2019 Apr 14;314:91-99. Epub 2019 Jan 14.

Center for Child and Adolescent Medicine, Division for Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Acute hyperammonemic encephalopathy is a life-threatening manifestation of individuals with urea cycle disorders, which is associated with high mortality rates and severe neurological sequelae in survivors. Cerebral bioenergetic failure has been proposed as one of the key mechanisms underlying hyperammonemia-induced brain damage, but data supporting this hypothesis remain inconclusive and partially contradictory. Using a previously established zebrafish model of acute hyperammonemic decompensation, we unraveled that acute hyperammonemia leads to a transamination-dependent withdrawal of 2-oxoglutarate (alpha-ketoglutarate) from the tricarboxylic acid (TCA) cycle with consecutive TCA cycle dysfunction, ultimately causing impaired oxidative phosphorylation with ATP shortage, decreased ATP/ADP-ratio and elevated lactate concentrations. Read More

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http://dx.doi.org/10.1016/j.expneurol.2019.01.008DOI Listing
April 2019
7 Reads

An engineered Nissle improves hyperammonemia and survival in mice and shows dose-dependent exposure in healthy humans.

Sci Transl Med 2019 Jan;11(475)

Synlogic Inc., 301 Binney Street, Cambridge, MA 02142, USA.

The intestine is a major source of systemic ammonia (NH); thus, capturing part of gut NH may mitigate disease symptoms in conditions of hyperammonemia such as urea cycle disorders and hepatic encephalopathy. As an approach to the lowering of blood ammonia arising from the intestine, we engineered the orally delivered probiotic Nissle 1917 to create strain SYNB1020 that converts NH to l-arginine (l-arg). We up-regulated arginine biosynthesis in SYNB1020 by deleting a negative regulator of l-arg biosynthesis and inserting a feedback-resistant l-arg biosynthetic enzyme. Read More

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http://dx.doi.org/10.1126/scitranslmed.aau7975DOI Listing
January 2019
4 Reads

Chronic hyperammonemia alters extracellular glutamate, glutamine and GABA and membrane expression of their transporters in rat cerebellum. Modulation by extracellular cGMP.

Neuropharmacology 2019 Jan 11. Epub 2019 Jan 11.

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

Trafficking of glutamate, glutamine and GABA between astrocytes and neurons is essential to maintain proper neurotransmission. Chronic hyperammonemia alters neurotransmission and cognitive function. The aims of this work were to analyze in cerebellum of rats the effects of chronic hyperammonemia on: a) extracellular glutamate, glutamine and GABA concentrations; b) membrane expression of glutamate, glutamine and GABA transporters; c) how they are modulated by extracellular cGMP. Read More

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http://dx.doi.org/10.1016/j.neuropharm.2019.01.011DOI Listing
January 2019
1 Read

Increase in P-glycoprotein levels in the blood-brain barrier of partial portal vein ligation /chronic hyperammonemia rats is medicated by ammonia/reactive oxygen species/ERK1/2 activation: In vitro and in vivo studies.

Eur J Pharmacol 2019 Mar 9;846:119-127. Epub 2019 Jan 9.

Center of Drug Metabolism and Pharmacokinetics, School of Pharmacy, China Pharmaceutical University, Nanjing, China. Electronic address:

Liver failure altered P-glycoprotein (P-gp) function and expression at blood-brain barrier (BBB), partly owing to hyperammonemia. We aimed to examine the effects of partial portal vein ligation (PVL) plus chronic hyperammonemia (CHA) on P-gp function and expression at rat BBB. Experimental rats included sham-operation (SH), PVL, CHA and PVL+CHA. Read More

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http://dx.doi.org/10.1016/j.ejphar.2019.01.005DOI Listing
March 2019
2 Reads
2.532 Impact Factor

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Transl Sci Rare Dis 2018 Dec 20;3(3-4):157-170. Epub 2018 Dec 20.

Children's National Health System, Washington, DC, USA.

Organic acidemias and urea cycle disorders are ultra-rare inborn errors of metabolism characterized by episodic acute decompensation, often associated with hyperammonemia, resulting in brain edema and encephalopathy. Retrospective reports and translational studies suggest that N-carbamylglutamate (NCG) may be effective in reducing ammonia levels during acute decompensation in two organic acidemias, propionic and methylmalonic acidemia (PA and MMA), and in two urea cycle disorders, carbamylphosphate synthetase 1 and ornithine transcarbamylase deficiency (CPSD and OTCD). We established the 9-site N-carbamylglutamate Consortium (NCGC) in order to conduct two randomized double-blind, placebo-controlled trials of NCG in acute hyperammonemia of PA, MMA, CPSD and OTCD. Read More

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http://dx.doi.org/10.3233/TRD-180031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311376PMC
December 2018

Gene Therapy for Treatment of Chronic Hyperammonemia in a Rat Model of Hepatic Encephalopathy.

Ann Hepatol 2018 Oct;17(6):1026-1034

Departamento de Gastroenterología. Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico.

Introduction And Aim: Hepatic encephalopathy (HE), caused by hyperammonemia resulting from liver disease, is a spectrum of neuropsychiatric and motor disorders that can lead to death. Existing therapies are deficient and alternative treatments are needed. We have shown that gene therapy with a baculovirus vector containing the glutamine synthetase (Bac-GS) gene is efficient for reducing ammonia levels in an acute hyperammonemia rat model. Read More

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http://dx.doi.org/10.5604/01.3001.0012.7203DOI Listing
October 2018
2 Reads

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.

Authors:
Toru Watanabe

Pediatric Health Med Ther 2018 12;9:181-190. Epub 2018 Dec 12.

Department of Pediatrics, Niigata City General Hospital, Niigata City 950-1197, Japan,

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Read More

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https://www.dovepress.com/improving-outcomes-for-patients-wi
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http://dx.doi.org/10.2147/PHMT.S174459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296208PMC
December 2018
6 Reads

Adult-onset type II citrullinemia: Current insights and therapy.

Appl Clin Genet 2018 12;11:163-170. Epub 2018 Dec 12.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan,

Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifestations. It causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Patients with NICCD present with intrahepatic cholestasis in the neonatal period and usually respond to the treatment with medium-chain triglyceride (MCT) supplement and lactose-restricted formula. Read More

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https://www.dovepress.com/adult-onset-type-ii-citrullinemia-
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http://dx.doi.org/10.2147/TACG.S162084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296197PMC
December 2018
12 Reads

Brain mitochondria as potential therapeutic targets for managing hepatic encephalopathy.

Authors:
Reza Heidari

Life Sci 2019 Feb 19;218:65-80. Epub 2018 Dec 19.

Pharmaceutical Sciences Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

Hepatic encephalopathy (HE) is a critical clinical complication. There is a consensus that ammonia plays a pivotal role in the pathogenesis of HE. Ammonia is a neurotoxin which induces a wide range of functional disturbances in the central nervous system (CNS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00243205183082
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http://dx.doi.org/10.1016/j.lfs.2018.12.030DOI Listing
February 2019
6 Reads
2.702 Impact Factor

Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.

J Vet Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Department of Veterinary Internal Medicine, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan.

A 9-month-old intact crossbred female cat was presented with jaundice, intermittent anorexia and lethargy, increased hepatic enzyme activities, and hyperammonemia. Abdominal ultrasound and computed tomographic examinations determined that the liver had a rounded and irregular margin, and histopathological examination identified excessive accumulation of copper hepatocytes in the liver. Concentrations of both blood and urine copper were higher than in healthy cats. Read More

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http://dx.doi.org/10.1111/jvim.15399DOI Listing
December 2018
1 Read

A Case of Reye Syndrome Caused by Influenza A Virus.

Ochsner J 2018 ;18(4):425-427

The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA.

Background: Reye syndrome is a rare and potentially life-threatening disease characterized by liver failure and hepatic encephalopathy. Multiple possible etiologies have been suggested, but only aspirin (acetylsalicylic acid) has been statistically proven to be a causative factor. We describe a case of Reye syndrome secondary to influenza A virus. Read More

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http://www.ochsnerjournal.org/lookup/doi/10.31486/toj.18.009
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http://dx.doi.org/10.31486/toj.18.0098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292460PMC
January 2018
12 Reads

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Orphanet J Rare Dis 2018 Dec 6;13(1):219. Epub 2018 Dec 6.

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT, 84132, USA.

Background: The 'classic' organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied by severe hyperammonaemia and constitutes a metabolic emergency, as increased ammonia levels and accumulating toxic metabolites are associated with life-threatening neurological complications. Repeated and frequent episodes of hyperammonaemia (alongside metabolic decompensations) can result in impaired growth and intellectual disability, the severity of which increase with longer duration of hyperammonaemia. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0963-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273PMC
December 2018
2 Reads

[Cobalamin deficiency in dogs and cats].

Tierarztl Prax Ausg K Kleintiere Heimtiere 2018 Oct 12;46(5):309-314. Epub 2018 Dec 12.

Cobalamin is a member of the B-group of vitamins and a cofactor for metabolic processes like nucleic acid synthesis, amino acid synthesis, and the citric acid cycle. Mammals are unable to synthesize cobalamin and therefore rely on adequate food intake. Cobalamin absorption is a complex process in the stomach, duodenum, and ileum, requiring a functional exocrine pancreas. Read More

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http://www.thieme-connect.de/DOI/DOI?10.15654/TPK-180458
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http://dx.doi.org/10.15654/TPK-180458DOI Listing
October 2018
16 Reads

Clinical and genetic diversity of congenital hyperammonemia.

Rom J Morphol Embryol 2018 ;59(3):945-948

Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

Congenital hyperammonemia (HA) due to inborn errors of metabolism is a rare condition with a high rate of mortality. The main effects occur at the central nervous system (CNS) level, being neurotoxic by alteration of the neurotransmitter function. HA can be triggered by an inappropriate diet, infection or stress, but can also occur without a precise cause. Read More

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January 2019
2 Reads

5-Fluorouracil rechallenge after 5-fluorouracil-induced hyperammonemic encephalopathy.

Anticancer Drugs 2019 Mar;30(3):313-317

Medical Oncology Department, Gustave Roussy, Université Paris-Saclay.

For several decades, 5-Fluorouracil (5-FU) has been the backbone of many chemotherapy regimens for various tumor types. Its most common side effects are gastrointestinal disorders, mucositis, myelosuppression, hand-foot syndrome, and rarely cardiac toxicity. More rarely, 5-FU infusion can induce hyperammonemic encephalopathy. Read More

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http://dx.doi.org/10.1097/CAD.0000000000000730DOI Listing
March 2019
5 Reads

TLR5 silencing reduced hyperammonaemia-induced liver injury by inhibiting oxidative stress and inflammation responses via inactivating NF-κB and MAPK signals.

Chem Biol Interact 2019 Feb 30;299:102-110. Epub 2018 Nov 30.

Department of Infectious Disease, The First Affiliated Hospital of Zhengzhou University, 450052, China. Electronic address:

Background: Liver injury is a serious threat for human health and life. Toll-like receptor 5 (TLR5) has reported to be a vital mediator in flagellin or tetrachloride (CCl4)-induced liver injury. However, the roles and etiology of TLR5 in hyperammonaemia (HA)-induced liver injury are poor defined. Read More

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http://dx.doi.org/10.1016/j.cbi.2018.11.026DOI Listing
February 2019
3 Reads

Unexplained encephalopathy with phenytoin toxicity - hyperammonemia, the underlying cause.

Neurol India 2018 Nov-Dec;66(6):1829-1831

Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0028-3886.246257DOI Listing
December 2018
1 Read

[Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):848-851

Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic basis for a neonate featuring hyperammonemia.

Methods: The patient was examined and tested by tandem mass spectrometry and next generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the proband and her parents. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.017DOI Listing
December 2018
9 Reads

Review of diffuse cortical injury on diffusion-weighted imaging in acutely encephalopathic patients with an acronym: "CRUMPLED".

Eur J Radiol Open 2018 9;5:194-201. Epub 2018 Nov 9.

Department of Radiology, Division of Neuroradiology, University of Minnesota Medical Center, Minneapolis, MN, USA.

Purpose: Acute encephalopathic syndromes can present a diagnostic challenge due to the wide range of possible etiologies, which also can have vastly different outcomes. The presence of diffuse cortical injury (DCI) on diffusion-weighted imaging (DWI) can help narrow the differential diagnosis. The aim of this review is to categorize the range of possible etiologies of DCI into a useful acronym, "CRUMPLED". Read More

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http://dx.doi.org/10.1016/j.ejro.2018.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231053PMC
November 2018
10 Reads

[A Case of Recurrent Hyperammonemic Encephalopathy during Adjuvant Chemotherapy(Modified FOLFOX6)for Colorectal Cancer].

Gan To Kagaku Ryoho 2018 Nov;45(11):1665-1668

Dept. of Surgery, Japan Community Health care Organization Tokyo Kamata Medical Center.

A 60-year-old woman was administered mFOLFOX6 therapy as postoperative adjuvant chemotherapy for fStage III a ascending colon cancer. The patient developed a disorder of consciousness(Japan Coma Scale[JCS]III-200)immediately after the completion of the therapy. Blood ammonia levels were high at 319 mg/dL, and a diagnosis of disturbance of consciousness due to hyperammonemia was made. Read More

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November 2018
8 Reads

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.

Intern Med 2018 Nov 19. Epub 2018 Nov 19.

Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. Read More

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https://www.jstage.jst.go.jp/article/internalmedicine/advpub
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http://dx.doi.org/10.2169/internalmedicine.1851-18DOI Listing
November 2018
23 Reads

Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia.

Clin Res Hepatol Gastroenterol 2018 Nov 14. Epub 2018 Nov 14.

Assistance publique-hôpitaux de Paris, hôpital Beaujon, service d'hépatologie, Inserm U1149, université Paris Diderot, 92110 Clichy, France.

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https://linkinghub.elsevier.com/retrieve/pii/S22107401183022
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http://dx.doi.org/10.1016/j.clinre.2018.10.011DOI Listing
November 2018
6 Reads

Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report.

Cureus 2018 Sep 12;10(9):e3292. Epub 2018 Sep 12.

Medical Student, American University of Integrative Sciences, Bridgewater, BRB.

Valproic acid, first manufactured as an anticonvulsant, is commonly used to treat both neurological and psychiatric conditions. A rare and deadly side effect of this medication is hyperammonemia, presenting as lethargy, confusion, seizure, and, ultimately, coma. In rare circumstances, hyperammonemia can be recurrent and devastating, especially in patients with an underlying N-acetyl glutamate synthase (NAGS) deficiency, as the valproic acid can enhance this enzyme deficiency and inhibit the conversion of ammonia into urea in the liver. Read More

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http://dx.doi.org/10.7759/cureus.3292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235635PMC
September 2018
18 Reads

Acute hyperammonemia in children under deferasirox treatment: cutting the Gordian knot.

Clin Toxicol (Phila) 2018 Nov 16:1-2. Epub 2018 Nov 16.

d DEA Paediatric Intensive Care Unit , IRCCS Bambino Gesù Children's Hospital , Rome , Italy.

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http://dx.doi.org/10.1080/15563650.2018.1523425DOI Listing
November 2018
3 Reads

A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.

Neuropediatrics 2019 Feb 15;50(1):51-53. Epub 2018 Nov 15.

Division of Pediatric Neurology, Lösante Children's and Adult Hospital, Gölbaşı, Ankara, Turkey.

Mutations in the human gene, which encodes the enzyme glutamine synthetase (GS), may cause congenital glutamine synthetase deficiency. The disease was first described in 2005 and only three patients have been reported to date. We report a fourth patient suffering from congenital GS deficiency who was found to have some distinctive clinical findings. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675637
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http://dx.doi.org/10.1055/s-0038-1675637DOI Listing
February 2019
14 Reads

Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line.

Int J Mol Sci 2018 Nov 13;19(11). Epub 2018 Nov 13.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", 80131 Naples, Italy.

Methylmalonic acidemias (MMAs) are inborn errors of metabolism due to the deficient activity of methylmalonyl-CoA mutase (MUT). MUT catalyzes the formation of succinyl-CoA from methylmalonyl-CoA, produced from propionyl-CoA catabolism and derived from odd chain fatty acids β-oxidation, cholesterol, and branched-chain amino acids degradation. Increased methylmalonyl-CoA levels allow for the presymptomatic diagnosis of the disease, even though no approved therapies exist. Read More

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http://www.mdpi.com/1422-0067/19/11/3580
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http://dx.doi.org/10.3390/ijms19113580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275031PMC
November 2018
17 Reads

Neuroprotective Effect of Nortriptyline in Overt Hepatic Encephalopathy Through Attenuation of Mitochondrial Dysfunction.

ASN Neuro 2018 Jan-Dec;10:1759091418810583

1 Department of Anatomy, College of Medicine, Konyang University, Daejeon, South Korea.

Hyperammonemia associated with overt hepatic encephalopathy (OHE) causes excitotoxic neuronal death through activation of the cytochrome C (CytC)-mediated mitochondria-dependent apoptotic pathway. We tested the therapeutic effect of nortriptyline (NT), a mitochondrial permeability transition pore (mPTP) blocker that can possibly inhibit mitochondrial CytC efflux to the cytosol on in vivo and in vitro OHE models. After ensuring the generation of OHE rats, established by bile duct ligation (BDL), they were intraperitoneally administered either 20 mg/kg NT (i. Read More

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http://journals.sagepub.com/doi/10.1177/1759091418810583
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http://dx.doi.org/10.1177/1759091418810583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238202PMC
November 2018
12 Reads

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Balkan J Med Genet 2018 Jun 29;21(1):77-81. Epub 2018 Oct 29.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. Read More

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http://content.sciendo.com/view/journals/bjmg/21/1/article-p
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http://dx.doi.org/10.2478/bjmg-2018-0014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231311PMC
June 2018
17 Reads

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism.

J Emerg Med 2019 Jan 9;56(1):e5-e8. Epub 2018 Nov 9.

University of Utah, Salt Lake City, Utah.

Background: Inborn errors of metabolism (IEM) commonly present in infancy and, less commonly, later in life.

Case Report: This case describes an IEM, specifically, ornithine transcarbamylase deficiency, in a previously healthy 7-year-old boy who presented to an emergency department with vomiting for approximately 24 h prior to admission. The child became progressively encephalopathic while in the emergency department, but an ammonia level was not obtained until several hours after admission. Read More

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http://dx.doi.org/10.1016/j.jemermed.2018.09.037DOI Listing
January 2019
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Congenital intrahepatic portocaval shunts and hypoglycemia due to secondary hyperinsulinism: a case report and review of the literature.

J Med Case Rep 2018 Nov 12;12(1):336. Epub 2018 Nov 12.

Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.

Background: Congenital portosystemic shunts present with various associated complications, such as other congenital malformations, hyperammonemia, or hepatopulmonary syndrome. Few cases of associated hypoglycemia have been reported so far and our case, to the best of our knowledge, describes the most severe extent of hypoglycemia.

Case Presentation: We describe the case of a newborn Arab boy with two intrahepatic portosystemic shunts, resulting in severe and persistent hypoglycemia, due to which one of the shunts was closed by interventional radiology whereas the other shunt had already closed spontaneously. Read More

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http://dx.doi.org/10.1186/s13256-018-1881-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231275PMC
November 2018
3 Reads

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.

JIMD Rep 2019 8;45:83-87. Epub 2018 Nov 8.

Indiana University School of Medicine, Indianapolis, IN, USA.

Ornithine transcarbamylase (OTC) deficiency is well known to cause severe neonatal hyperammonemia in males with absent enzyme activity. In families with large deletions of the X chromosome involving OTC and other contiguous genes, male infants appear to have an even more severe course. Notably, there are no published reports of these males surviving to liver transplant, even in cases where the diagnosis was known or suspected at birth. Read More

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http://dx.doi.org/10.1007/8904_2018_145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336553PMC
November 2018
1 Read

Renal replacement therapy in neonates with an inborn error of metabolism.

Authors:
Heeyeon Cho

Korean J Pediatr 2019 Feb 7;62(2):43-47. Epub 2018 Nov 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels of ammonia are extremely neurotoxic, leading to astrocyte swelling, brain edema, coma, severe disability, and even death. Thus, emergency treatment for hyperammonemia must be initiated before a precise diagnosis is established. Read More

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2018.07143
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http://dx.doi.org/10.3345/kjp.2018.07143DOI Listing
February 2019
9 Reads

Successful treatment of Ureaplasma-induced hyperammonemia syndrome post-lung transplant.

Transpl Infect Dis 2019 Feb 22;21(1):e13022. Epub 2018 Nov 22.

Division of Allergy, Pulmonary, and Critical Care, Department of Internal Medicine, University of Wisconsin Hospital and Clinics, University of Wisconsin School of Medicine-Madison School of Medicine and Public Health, Madison, Wisconsin.

Hyperammonemia, in the absence of significant liver dysfunction, is an uncommon but often fatal occurrence following orthotopic lung transplant. Prior reports have provided evidence to support Ureaplasma species as an etiology for this syndrome. This case report describes an individual post-lung transplant, treated emperically with doxycycline along with other measures to lower ammonia levels, at the time hyperammonemia with encephalopathy was recognized. Read More

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http://doi.wiley.com/10.1111/tid.13022
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http://dx.doi.org/10.1111/tid.13022DOI Listing
February 2019
14 Reads

Severe hyperammonaemic encephalopathy resulting from the overlap between hepatic and valproate encephalopathy.

Postgrad Med J 2018 Nov 5;94(1117):664. Epub 2018 Nov 5.

Intensive Care Unit, West Cumberland Hospital, Whitehaven, UK.

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http://dx.doi.org/10.1136/postgradmedj-2018-136029DOI Listing
November 2018
3 Reads