Results 11 to 20 of about 18,550 (219)

Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria

Pharmacological Research, 2023
Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA).
Sara Parolisi, Chiara Montanari, Elisa Borghi, Chiara Cazzorla, Juri Zuvadelli, Martina Tosi, Rita Barone, Giulia Bensi, Cristina Bonfanti, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria T. Carbone, Elvira Verduci   +13 more
doaj   +1 more source

Extensive Anti-CoA Immunostaining in Alzheimer’s Disease and Covalent Modification of Tau by a Key Cellular Metabolite Coenzyme A

Frontiers in Cellular Neuroscience, 2021
Alzheimer’s disease (AD) is a neurodegenerative disorder, accounting for at least two-thirds of dementia cases. A combination of genetic, epigenetic and environmental triggers is widely accepted to be responsible for the onset and development of AD ...
Tammaryn Lashley, Tammaryn Lashley, Maria-Armineh Tossounian, Neve Costello Heaven, Neve Costello Heaven, Samantha Wallworth, Sew Peak-Chew, Aaron Bradshaw, J. Mark Cooper, Rohan de Silva, Surjit Kaila Srai, Oksana Malanchuk, Valeriy Filonenko, Margreet B. Koopman, Margreet B. Koopman, Stefan G. D. Rüdiger, Stefan G. D. Rüdiger, Mark Skehel, Ivan Gout, Ivan Gout   +19 more
doaj   +1 more source

Quantitative Analysis of Neurotransmitter Pathways under Steady State Conditions – A Perspective

Frontiers in Endocrinology, 2013
In a contribution to this Research Topic Erkki Somersalo and Daniela Calvetti carried out a mathematical analysis of neurotransmitter pathways in brain, modeling compartmental nitrogen flux among several major participants – ammonia, glutamine, glutamate,
Arthur Joseph Cooper
doaj   +1 more source

Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. [PDF]

, 2019
This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology ...
Bernasconi S, Borrelli M, Caffarelli C, Corsello G., Di Pinto R, Gaeta V, Iovane B, Mastrorilli C, Petraroli M, Santamaria F, Santoro A   +10 more
core   +2 more sources

Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low ...
Florentina Moldovanu, Radu Bogdan Calin, Micaela Iuliana Nanu, Marina Ruxandra Otelea   +3 more
doaj   +1 more source

Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]

, 2014
The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia, Giulivi, Cecilia, Napoli, Eleonora   +2 more
core   +1 more source

Macro-AST: misleading finding in an adolescent with MCAD-deficiency

BMC Gastroenterology, 2012
Background MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of ...
Das Anibh M, Drache Sabine, Janzen Nils, Franke Andreas   +3 more
doaj   +1 more source

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind

Frontiers in Molecular Biosciences, 2020
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
doaj   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Orthotopic liver transplantation for urea cycle enzyme deficiency [PDF]

, 1992
Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14‐day‐old boy with carbamyl phosphate synthetase‐I deficiency and in a 35‐yr‐old man with ...
Bachmann, Broelsch, Brusilow, Brusiow, Featherston, Green, Largilliere, Moore, Nuzum, Roth, Saheki, Starzl, Starzl, Voorhies, Windmueller, Wood, Wood   +16 more
core   +1 more source