Results 11 to 20 of about 23,446 (182)

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

SAGE Open Medical Case Reports, 2014
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene.
Eric T Rush, Julianne E Hartmann, Jill C Skrabal, William B Rizzo   +3 more
doaj   +2 more sources

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives

Patient Preference and Adherence, 2017
Luis Peña-Quintana,1–3 Marta Llarena,2 Desiderio Reyes-Suárez,2 Luis Aldámiz-Echevarria4 1Pediatric Gastroenterology, Hepatology, and Nutrition Unit, Universitario Materno-Infantil Hospital de Canarias, University of Las ...
Peña-Quintana L, Llarena M, Reyes-Suárez D, Aldámiz-Echevarria L   +3 more
doaj   +1 more source

Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model. [PDF]

J Inherit Metab Dis, 2022
Amino acids, the building blocks of proteins in the cells and tissues, are of fundamental importance for cell survival, maintenance, and proliferation.
Mao X, Chen H, Lin AZ, Kim S, Burczynski ME, Na E, Halasz G, Sleeman MW, Murphy AJ, Okamoto H, Cheng X.   +10 more
europepmc   +2 more sources

Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders

Molecular Genetics and Metabolism Reports
Citrin deficiency is a congenital secondary urea cycle disorder lacking useful disease models for effective treatment development. In this study, human induced pluripotent stem cells (iPSCs) were generated from two patients with citrin deficiency and ...
Mai Okano, Masahiro Yasuda, Yui Shimomura, Yoshikazu Matsuoka, Yasumasa Shirouzu, Tatsuya Fujioka, Masatoshi Kyo, Shoji Tsuji, Kazunari Kaneko, Hirofumi Hitomi   +9 more
doaj   +2 more sources

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. [PDF]

Genet Med, 2015
PURPOSE: The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders. METHODS: The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were ...
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, UCD Consortium, Scharschmidt BF.   +30 more
europepmc   +2 more sources

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises. [PDF]

Pediatr Neurol
Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises.
Chanvanichtrakool M, Schreiber JM, Chen WL, Barber J, Zhang A, Ah Mew N, Schulze A, Wilkening G, Nagamani SCS, Gropman A, Urea Cycle Disease Consortium.   +10 more
europepmc   +2 more sources

A Case with Autism Spectrum Disorder and Concomitant Arginase Deficiency

Journal of Behçet Uz Children's Hospital
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by lack of social interaction, limited areas of interest, and repetitive behaviors.
Rabia Eren, Buket Canlan Özaydın, Emine Göksoy, Zehra Manav Yiğit, Börte Gürbüz Özgür   +4 more
doaj   +2 more sources

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature [PDF]

Case Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay, Thomas P. Bleck, Katharina M. Busl   +2 more
doaj   +2 more sources

ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder. [PDF]

J Extra Corpor Technol, 2020
Since the initial deployment of neonatal extracorporeal membrane oxygenation (ECMO) for respiratory failure, the use of ECMO in this population has diversified.
Ikeri K, Cardona VQ, Hagan-Brown A, Young M, Schneider M, Menkiti O.   +5 more
europepmc   +2 more sources

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. [PDF]

J Biol Chem, 2013
Argininosuccinic aciduria (ASA) is an autosomal recessive urea cycle disorder caused by deficiency of argininosuccinate lyase (ASL) with a wide clinical spectrum from asymptomatic to severe hyperammonemic neonatal onset life-threatening courses.
Hu L, Pandey AV, Eggimann S, Rüfenacht V, Möslinger D, Nuoffer JM, Häberle J.   +6 more
europepmc   +2 more sources