Results 11 to 20 of about 161,797 (274)

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet [PDF]

Healthcare Informatics Research
Objectives Disorders of amino acid metabolism fall under the category of inborn errors of metabolism that can be managed with a protein-restricted diet.
Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni   +6 more
doaj   +2 more sources

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]

PeerJ
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue   +4 more
doaj   +3 more sources

Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT The human liver plays a central metabolic role; however, its physiology may become imbalanced in inborn errors of metabolism (IEM), a broad category of monogenic disorders. Liver transplantation has been increasingly used to improve patient metabolic control, especially in diseases related to amino acid metabolism, such as urea cycle disorders
Samira Safarikia, Riccardo Cirelli, Gionata Spagnoletti, Diego Martinelli, Giulia Bravetti, Paola Francalanci, Annamaria D'Alessandro, Giovina Di Felice, Marta Maistri, Elena Baldissone, Alberto M. Fratti, Raffaele Simeoli, Elisa Sacchetti, Sara Cairoli, Cristiano Rizzo, Rosanna Pariante, Michele Vacca, Andrea Cappoli, Christian Albano, Andrea Pietrobattista, Marco Spada, Carlo Dionisi Vici   +21 more
wiley   +2 more sources

Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Urea cycle disorders (UCDs) are a group of genetic metabolic conditions characterized by enzyme deficiencies responsible for detoxifying ammonia. Hyperammonemia, the accumulation of intermediate metabolites, and a deficiency of essential amino acids—due to a protein‐restrictive diet and the use of ammonia scavengers—can increase the risk of ...
Betul Gemici Karaaslan, Ayca Kiykim, Nihan Burtecene, Meltem Gokden, Mehmet Serif Cansever, Duhan Hopurcuoglu, Gökçe Nuran Cengiz, Birol Topcu, Tanyel Zubarioğlu, Ertugrul Kiykim, Haluk Cokuğras, Ayse Cigdem Aktuglu Zeybek   +11 more
wiley   +2 more sources

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT The Leloir pathway was elucidated decades ago, unraveling how galactose is metabolized in the body. Different inborn errors of metabolism in this pathway are known, the most frequent and well‐studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene.
M. Estela Rubio‐Gozalbo, E. Naomi Vos, Isabel Rivera, Kent Lai, Gerard T. Berry   +4 more
wiley   +2 more sources

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +2 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić   +3 more
doaj   +1 more source

Dietary Restriction of Amino Acids for Cancer Therapy [PDF]

Nutrition & Metabolism 2020, 17, 20, 2020
Biosyntheses of proteins, nucleotides and fatty acids, are essential for the malignant proliferation and survival of cancer cells. Cumulating research findings show that amino acid restrictions are potential strategies for cancer interventions. Meanwhile, dietary strategies are popular among cancer patients.
arxiv   +1 more source

Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Asian Journal of Medical Sciences, 2013
Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj   +1 more source