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Hyperammonemia

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https://www.readbyqxmd.com/read/28526534/3-methylglutaconic-aciduria-a-frequent-but-underrecognized-finding-in-carbamoyl-phosphate-synthetase-i-deficiency
#1
Dariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, Meow-Keong Thong, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Maciej Pronicki, Roman Sikora, Rijad Haidar, Mariusz Ołtarzewski, Ewa Jabłońska, Premala Muthukumarasamy, Pavai Sthaneswar, Chin-Seng Gan, Małgorzata Krajewska-Walasek, Rosalba Carrozzo, Daniela Verrigni, Michela Semeraro, Cristiano Rizzo, Roberta Taurisano, Bader Alhaddad, Reka Kovacs-Nagy, Tobias B Haack, Carlo Dionisi-Vici, Ewa Pronicka, Saskia B Wortmann
The urea cycle disorder carbamoyl phosphate synthetase I deficiency is an important differential diagnosis in the encephalopathic neonate. This intoxication type inborn error of metabolism often leads to neonatal death or severe and irreversible damage of the central nervous system, even despite appropriate treatment. Timely diagnosis is crucial, but can be difficult on routine metabolite level. Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres...
May 16, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28514703/bacterial-infections-and-hepatic-encephalopathy-in-liver-cirrhosis-prophylaxis-and-treatment
#2
REVIEW
Damian Piotrowski, Anna Boroń-Kaczmarska
Infections are common among patients with liver cirrhosis. They occur more often in cirrhotic patient groups than in the general population and result in higher mortality. One reason for this phenomenon is bacterial translocation from the intestinal lumen that occurs as a consequence of intestinal bacterial overgrowth, increased permeability and decreased motility. The most common infections in cirrhotic patients are spontaneous bacterial peritonitis and urinary tract infections, followed by pneumonia, skin and soft tissue infections...
May 14, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28506823/hyperammonemia-compromises-glutamate-metabolism-and-reduces-bdnf-in-the-rat-hippocampus
#3
Fabiana Galland, Elisa Negri, Carollina Da Ré, Fernanda Fróes, Liliane Strapazzon, Maria Cristina Guerra, Lucas Silva Tortorelli, Carlos-Alberto Gonçalves, Marina Concli Leite
Ammonia is putatively the major toxin associated with hepatic encephalopathy (HE), a neuropsychiatric manifestation that results in cognitive impairment, poor concentration and psychomotor alterations. The hippocampus, a brain region involved in cognitive impairment and depressive behavior, has been studied less than neocortical regions. Herein, we investigated hippocampal astrocyte parameters in a hyperammonemic model without hepatic lesion and in acute hippocampal slices exposed to ammonia. We also measured hippocampal BDNF, a neurotrophin commonly related to synaptic plasticity and cognitive deficit, and peripheral S100B protein, used as a marker for brain damage...
May 12, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28505498/ameliorative-effects-of-rutin-on-hepatic-encephalopathy-induced-by-thioacetamide-or-gamma-irradiation
#4
Somaya Z Mansour, Seham M El-Marakby, Fatma S M Moawed
Hepatic encephalopathy (HE) is a syndrome resulting from acute or chronic liver failure. This study was designed to evaluate the effect of rutin on thioacetamide (TAA) or γ-radiation-induced HE model. Animals were received with TAA (200mg/kg, i.p.) twice weekly for four weeks or exposed to 6Gy of γ-radiation to induce HE then groups orally treated with rutin (50mg/kg b.wt.) for four weeks. At the end of experiment, blood, liver and brain samples were collected to assess biochemical and biophysical markers as well histopathological investigations...
May 8, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28491179/transhepatic-embolization-of-a-congenital-intrahepatic-portosystemic-shunt-for-the-treatment-of-hepatic-encephalopathy-in-a-noncirrhotic-patient-using-amplatzer-vascular-plug-device
#5
Rachel Ann Brader, Kyung Rae Kim
A 73-year-old male with no history of liver disease was hospitalized for weakness, confusion, ataxia, and new onset hepatic encephalopathy with hyperammonemia. After management with lactulose and rifaximin, his symptoms persisted, and he underwent transjugular liver biopsy. Biopsy showed normal liver, but a portosystemic shunt was incidentally identified on postbiopsy venogram. The patient underwent occlusion of the shunt with two Amplatzer vascular plugs and four Nester coils. Following embolization, the patient's symptoms resolved completely...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28469525/recommendation-of-repeated-ammonia-tests-for-intrahepatic-portal-systemic-shunt-without-cirrhosis-in-elderly-patients-with-psychiatric-symptoms
#6
Michiaki Abe, Temma Soga, Nobuya Obana, Kazumasa Seiji, Masao Tabata, Natsumi Saito, Ryutaro Arita, Takehiro Numata, Junichi Tanaka, Hitoshi Kuroda, Shin Takayama, Yutaka Kagaya, Tadashi Ishii
We report an elderly male patient with hyperammonemia induced by intrahepatic portal-systemic shunt without cirrhosis (IPSSwoC). The occasional emergence of his erratic behaviors was misdiagnosed as a psychiatric disorder. Regardless of his uneven symptoms, IPSSwoC was suspected due to his hyperammonemia. The contrast computed tomography of the abdomen revealed a congenital type of IPSSwoC. As blood ammonia levels are inconstant, repeated blood tests are recommended when this disease is suspected in elderly patients with psychiatric symptoms...
2017: Japanese Clinical Medicine
https://www.readbyqxmd.com/read/28444906/carbamoyl-phosphate-synthetase-1-deficiency-diagnosed-by-whole-exome-sequencing
#7
Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu
BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28436001/gait-instability-in-valproate-treated-patients-call-to-measure-ammonia-levels
#8
S Kipervasser, C E Elger, A D Korczyn, R D Nass, C M Quesada, M Y Neufeld
OBJECTIVE: Hyperammonemia induced by valproate (VPA) treatment may lead to several neurological and systemic symptoms as well as to seizure exacerbation. Gait instability and recurrent falls are rarely mentioned as symptoms, especially not as predominant ones. METHODS: We report five adult patients with frontal lobe epilepsy (FLE) who were treated with VPA and in whom a primary adverse effect was unstable gait and falls. RESULTS: There were four males and one female patients with FLE, 25-42-year-old, three following epilepsy surgery...
April 23, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28425821/l-carnitine-supplementation-to-reverse-hyperammonemia-in-a-patient-undergoing-chronic-valproic-acid-treatment-a-case-report
#9
Cecilia Maldonado, Natalia Guevara, Alicia Silveira, Pietro Fagiolino, Marta Vázquez
Valproic acid is a broad-spectrum anticonvulsant that has also gained attention in the psychiatric setting. With respect to safety, valproic acid may induce a seemingly rare condition, hyperammonemia, which can induce a wide variety of symptoms ranging from irritability to coma. The proposed mechanism of hyperammonemia involves depletion of carnitine and overproduction of a toxic metabolite, 4-en-valproic acid, both of which impair the urea cycle and thus ammonia elimination. Carnitine is a commonly used antidote for acute intoxication of valproic acid, but is not a therapeutic option for management of chronic adults with adverse effects related to valproic acid...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28425418/recurrent-hyperammonemia-after-abernethy-malformation-type-2-closure-a-case-report
#10
Hui Li, Zhi Ma, Ying Xie, Feng Tian
The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established...
May 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28422839/unexpected-side-effect-in-mcrc-a-care-compliant-case-report-of-regorafenib-induced-hyperammonemic-encephalopathy
#11
Michela Quirino, Sabrina Rossi, Giovanni Schinzari, Michele Basso, Antonia Strippoli, Alessandra Cassano, Carlo Barone
RATIONALE: Regorafenib represents a treatment option in heavily pretreated patients affected by metastatic colorectal cancer (mCRC). Its safety profile is typical of small-molecule tyrosine-kinase inhibitors (TKIs) and most adverse events are manageable. PATIENT CONCERNS: A 56 years-old Caucasian man affected by mCRC with normal hepatic reserve was treated with regorafenib as second-line treatment. After only 2 days of therapy, the patient presented to the emergency department due to impairment of both spatial and temporal orientation and motor function with bradylalia...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28411969/valproate-induced-hyperammonemic-encephalopathy-in-general-hospital-patients-with-one-or-more-psychiatric-disorders
#12
Chandani Lewis, George E Tesar, Roman Dale
BACKGROUND: Divalproex sodium/valproic acid (VPA) is an antiepileptic drug approved for use in epilepsy and bipolar disorder. Valproate-induced hyperammonemia occurs in up to 50% of VPA-treated patients, some of whom may become encephalopathic. Valproate-induced hyperammonemic encephalopathy (VHE) is thought to be rare, and for a variety of reasons, the diagnosis requires a high index of suspicion. OBJECTIVE: The study's goals are to determine how common VHE is, and the quality of treatment provided when diagnosed...
February 24, 2017: Psychosomatics
https://www.readbyqxmd.com/read/28408159/brain-mrs-glutamine-as-a-biomarker-to-guide-therapy-of-hyperammonemic-coma
#13
Anne H O'Donnell-Luria, Alexander P Lin, Sai K Merugumala, Frances Rohr, Susan E Waisbren, Rebecca Lynch, Vatche Tchekmedyian, Aaron D Goldberg, Andrew Bellinger, J Ricardo McFaline-Figueroa, Tracey Simon, Esteban F Gershanik, Bruce D Levy, David E Cohen, Martin A Samuels, Gerard T Berry, Natasha Y Frank
Acute idiopathic hyperammonemia in an adult patient is a life-threatening condition often resulting in a rapid progression to irreversible cerebral edema and death. While ammonia-scavenging therapies lower blood ammonia levels, in comparison, clearance of waste nitrogen from the brain may be delayed. Therefore, we used magnetic resonance spectroscopy (MRS) to monitor cerebral glutamine levels, the major reservoir of ammonia, in a gastric bypass patient with hyperammonemic coma undergoing therapy with N-carbamoyl glutamate and the ammonia-scavenging agents, sodium phenylacetate and sodium benzoate...
March 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28403092/hyperammonemic-coma-after-craniotomy-hepatic-encephalopathy-from-upper-gastrointestinal-hemorrhage-or-valproate-side-effect-case-report-and-literature-review
#14
REVIEW
Xiaopeng Guo, Junji Wei, Lu Gao, Bing Xing, Zhiqin Xu
RATIONALE: Postoperative coma is not uncommon in patients after craniotomy. It generally presents as mental state changes and is usually caused by intracranial hematoma, brain edema, or swelling. Hyperammonemia can also result in postoperative coma; however, it is rarely recognized as a potential cause in coma patients. Hyperammonemic coma is determined through a complicated differential diagnosis, and although it can also be induced as a side effect of valproate (VPA), this cause is frequently unrecognized or confused with upper gastrointestinal hemorrhage (UGH)-induced hepatic encephalopathy...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28401058/a-rare-cause-of-recurrent-acute-pancreatitis-in-a-child-isovaleric-acidemia-with-novel-mutation
#15
Elif Sag, Alper Han Cebi, Gulay Kaya, Gulay Karaguzel, Murat Cakir
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28372492/prenatally-diagnosed-congenital-portosystemic-shunts
#16
Bérengère Francois, Alain Lachaux, Fréderic Gottrand, Stéphanie De Smet
AIM: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period. MATERIALS AND METHODS: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28350574/recurrent-hyperammonemia-associated-with-olanzapine
#17
Yung-Fu Wu
No abstract text is available yet for this article.
June 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28319158/a-morphological-method-for-ammonia-detection-in-liver
#18
Virginia Gutiérrez-de-Juan, Sergio López de Davalillo, David Fernández-Ramos, Lucía Barbier-Torres, Imanol Zubiete-Franco, Pablo Fernández-Tussy, Jorge Simon, Fernando Lopitz-Otsoa, Javier de Las Heras, Paula Iruzubieta, María Teresa Arias-Loste, Erica Villa, Javier Crespo, Raúl Andrade, M Isabel Lucena, Marta Varela-Rey, Shelly C Lu, José M Mato, Teresa Cardoso Delgado, María-Luz Martínez-Chantar
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia and a common event in acute liver injury/failure and chronic liver disease. Even though hepatic ammonia levels are potential predictive factors of patient outcome, easy and inexpensive methods aiming at the detection of liver ammonia accumulation in the clinical setting remain unavailable. Thus, herein we have developed a morphological method, based on the utilization of Nessler´s reagent, to accurately and precisely detect the accumulation of ammonia in biological tissue...
2017: PloS One
https://www.readbyqxmd.com/read/28302489/modelling-urea-cycle-disorder-citrullinemia-type-1-with-disease-specific-ipscs
#19
Elena Yukie Yoshitoshi-Uebayashi, Taro Toyoda, Katsutaro Yasuda, Maki Kotaka, Keiko Nomoto, Keisuke Okita, Kentaro Yasuchika, Shinya Okamoto, Noriyuki Takubo, Toshiya Nishikubo, Tomoyoshi Soga, Shinji Uemoto, Kenji Osafune
Citrullinemia type 1 (CTLN1) is a urea cycle disorder (UCD) caused by mutations of the ASS1 gene, which is responsible for production of the enzyme argininosuccinate synthetase (ASS), and classically presented as life-threatening hyperammonemia in newborns. Therapeutic options are limited, and neurological sequelae may persist. To understand the pathophysiology and find novel treatments, induced pluripotent stem cells (iPSCs) were generated from a CTLN1 patient and differentiated into hepatocyte-like cells (HLCs)...
March 14, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28298669/veno-venous-extracorporeal-membrane-oxygenation-for-continuous-renal-replacement-in-a-neonate-with-propionic-acidemia
#20
Jeffrey W Gander, Erika T Rhone, William G Wilson, John P Barcia, Melissa J Sacco
The usual indications for extra corporeal membrane oxygenation (ECMO) are for respiratory or cardiac failure. Although continuous renal replacement therapy (CRRT) is frequently used when patients are on ECMO, the need for CRRT as the primary indication for ECMO is rare. A case of a neonate placed onto veno-venous ECMO for the use of CRRT to treat hyperammonemia from propionic acidemia is presented.
March 2017: Journal of Extra-corporeal Technology
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