نتایج جستجو برای: transient hyperammonemia

تعداد نتایج: 128011  

Journal: :Experimental and Clinical Gastroenterology 2019

Journal: :Molecular Genetics and Metabolism 2014

Journal: :Molecular genetics and metabolism 2004
Claude Bachmann Olivier Braissant Anne-Marie Villard Olivier Boulat Hugues Henry

Symptoms of hyperammonemia are age-dependent and some are reversible. Multiple mechanisms are involved. Hyperammonemia increases the uptake of tryptophan into the brain by activation of the L-system carrier while brain glutamine plays a still undefined role. The uptake of tryptophan by the brain is enhanced when the plasma levels of branched-chain amino acids competing with the other large neut...

Journal: :The Tokai journal of experimental and clinical medicine 2007
Shinji Takashimizu Norihito Watanabe Seiichiro Kojima Tatehiro Kagawa Tetsuya Mine Kazunori Myojin Jun Koizumi

CASE A 73 year old female had been diagnosed as primary biliary cirrhosis and Sjögren's syndrome since the age of 50. With persisting hyperammonemia, the patient was admitted on several occasions for the management of hepatic encephalopathy. Computed tomography (CT) scan and magnetic resonance imaging (MRI) of the abdomen showed varices in the splenic hilar region and a splenorenal shunt. A bal...

2013
Sarah C Grünert Pablo Villavicencio-Lorini Bendicht Wermuth Willy Lehnert Jörn Oliver Sass K Otfried Schwab

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity. We report on a female with insulin dependent diabetes mellitus and recurrent episodes of hyperammonemia. Since OTC activity measured in a liver biopsy sample was within normal limits, OTC deficiency was initially excluded f...

2012
Danny Bega Henrikas Vaitkevicius Torrey A. Boland Michael Murray Sherry H.-Y. Chou

BACKGROUND Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury. We report a case of fatal hyperammonemic brain injury in a woman exposed to valproic acid. CASE A 38-year-old woman with schizoaffective disorder and recent increase in valproic acid dosage presented wit...

Journal: :American journal of human genetics 2014
Clara D van Karnebeek William S Sly Colin J Ross Ramona Salvarinova Joy Yaplito-Lee Saikat Santra Casper Shyr Gabriella A Horvath Patrice Eydoux Anna M Lehman Virginie Bernard Theresa Newlove Henry Ukpeh Anupam Chakrapani Mary Anne Preece Sarah Ball James Pitt Hilary D Vallance Marion Coulter-Mackie Hien Nguyen Lin-Hua Zhang Amit P Bhavsar Graham Sinclair Abdul Waheed Wyeth W Wasserman Sylvia Stockler-Ipsiroglu

Four children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and early childhood. We identified and validated three different CA5A alterations, including a homozygous missense mutation (c.697T>C) in two siblings, a homozygous splice site mutation (c.555G>A) leading to skipping of exon...

Journal: :The American journal of medicine 2003
Muhammad Omar Qureshi Nasir Khokhar Farzana Shafqat

OBJECTIVE To evaluate the correlation between ammonia levels with the severity of HE in patients coming to the tertiary care hospital with liver cirrhosis and hepatic encephalopathy (HE). STUDY DESIGN Descriptive, analytical study. PLACE AND DURATION OF STUDY Shifa International Hospital, Islamabad, from January 2011 to February 2012. METHODOLOGY A total of 135 patients with liver cirrhos...

Journal: :Biochimica et biophysica acta 1983
D R Deshmukh G D Deshmukh T C Shope N S Radin

Recent studies have indicated that viral infections, aspirin treatment and hyperammonemia are associated with Reye's syndrome. It has also been reported that free fatty acids in serum and total lipids in the liver of Reye's syndrome patients are elevated during illness. The role of the lipid changes in the development of the disorder cannot be optimally studied in human patients, because infect...

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