Results 41 to 50 of about 482,563 (236)

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

JIMD Reports, 2022
We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner   +19 more
doaj   +1 more source

Hepatic Encephalopathy Is Not Always due to Liver Cirrhosis

Case Reports in Gastroenterology, 2022
Hepatic encephalopathy (HE) is a frequent and debilitating complication of liver disease and is oftentimes associated with hyperammonaemia. However, hyperammonaemia may occur in underlying conditions other than acute or chronic liver failure and clinical
Miriam Eva Ecker, Maria Paparoupa, Bernd Sostmann, Karin Weissenborn, Frank Schuppert   +4 more
doaj   +1 more source

542 DIETARY THERAPY OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY [PDF]

Pediatric Research, 1978
Keto acid dietary therapy of complete OTC deficiency in one male resulted in survival to 5 months of age (Pediatr. Res. 11: 511, 1977). We are treating similarly a male who presented with hyperammonemic coma at 3 days of age. The family history was positive and liver OTC activity was
Virginia Michels, Arthur Beaudet, Mark Batshaw, Mackenzie Walser   +3 more
openaire   +1 more source

Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female

BMC Neurology, 2020
Background Acute hyperammonemia without signs of common causes in the elderly might be challenging to identify. We report the oldest case known to date of a female patient with late onset ornithine carbamyltransferase deficiency (OTC), which was unmasked
Justus Marquetand, Peter Freisinger, Tobias Lindig, Sebastian Euler, Michael Gasser, Dietrich Overkamp   +5 more
doaj   +1 more source

Novel mutation in OTC gene causes neonatal death in twin brothers

, 2007
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. OTC locus is located in the short arm of X-chromosome.
Nuoffer, J-M, Nagy, G R, Papp, Z, Nagy, B, Lázár, L, Largiadèr, C R, Nuoffer, Jean-Marc   +6 more
core   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Measuring Blood Plasma Glutamine Levels Using a Nanopore‐Based Sensor

Advanced Healthcare Materials, EarlyView.
Glutamine (GLN) is a biomarker useful for predicting toxic ammonia accumulation. Here, we used a biosensor based on the Cytolysin A (ClyA) nanopore coupled with the GLN‐specific protein substrate‐binding domain 2 (SBD2) to demonstrate real‐time measurement of GLN in blood plasma, highlighting the potential for future point‐of‐care applications ...
Sofia B. Relvas, Iris M. Kormelink, Sandra Michel‐Souzy, Florian L. R. Lucas, Nieck J. van der Heide, Hans R. Waterham, Ramon Versteeg, Judith Jans, Loes I. Segerink, Carsten Wloka   +9 more
wiley   +1 more source

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance

Clinical Case Reports, 2022
A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X‐linked ...
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek   +5 more
doaj   +1 more source

Supramolecular Zinc–Polyphenol Coordination Assemblies Mitigate Colonic Inflammation by Regulating Mucosal Barrier and Microbiome

Advanced Science, EarlyView.
A carrier‐free zinc‐coordinated polyphenol nanoplatform (ZnCA NPs) is designed as an “all‐in‐one” therapeutic strategy for intestinal inflammation. The ZnCA NPs exhibit enhanced colonic accumulation and broad‐spectrum reactive oxygen and nitrogen species scavenging.
Qiwen Xie, Mai Ye, Xuexia Liu, Jing Wang, Ying Chen, Lu Tan, Jinheng Fu, Xiaochang Huang   +7 more
wiley   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source