Results 1 to 10 of about 9,438 (208)

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease [PDF]

Metabolites
Hepatic mitochondria play critical roles in sustaining systemic nutrient balance, nitrogen detoxification, and cellular bioenergetics. These functions depend on tightly regulated mitochondrial processes, including amino acid catabolism, ammonia clearance
Ranya Erdal, Kıvanç Birsoy, Gokhan Unlu   +2 more
doaj   +2 more sources

Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy [PDF]

Children
Background/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized.
Bengisu Guner Yilmaz, Saygin Abali, Ariorad Moniri, Umut Kilinckaya, Ekin Altinbas, Beril Ay, Bengisu Karakose, Yusuf Sahinoglu, Melis Sahinoglu, Bugra Yilmaz, Mustafa Serteser, Ayse Korkmaz, Ozlem Pata, Serdar Beken   +13 more
doaj   +2 more sources

Small Molecules as Alternate Substrates for 3‐Methylglutaconylation [PDF]

JIMD Reports
The leucine catabolism pathway intermediate, trans‐3‐methylglutaconyl (3MGC) CoA, is susceptible to a series of non‐enzymatic reactions that generate organic acid waste products and protein 3MGCylation.
Elizabeth A. Jennings, Irina Romenskaia, Robert O. Ryan   +2 more
doaj   +2 more sources

Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Pediatric Reports, 2023
Background: Expanded newborn screening using tandem mass spectrometry (MS/MS) for inborn errors of metabolism (IEM), such as organic acidemias (OAs), fatty acid oxidation disorders (FAODs), and amino acid disorders (AAs), is increasingly popular but has ...
Faïza Meiouet, Sâad El Kabbaj, Rachid Abilkassem, François Boemer   +3 more
doaj   +1 more source

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other

Metabolites, 2022
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
Namgyu Lee, Dohoon Kim
doaj   +1 more source

Renal replacement therapy in neonates with an inborn error of metabolism [PDF]

Korean Journal of Pediatrics, 2019
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism.
Heeyeon Cho
doaj   +1 more source

Mothers’ lived experience of caring for children with inborn errors of amino acid metabolism

BMC Pediatrics, 2023
Background Inborn errors of amino acid metabolism are chronic conditions that have many sequels. Mothers of these children are facing different challenges which are underdetermined.
Sara Shirdelzade, Monir Ramezani, Peyman Eshraghi, Abbas Heydari   +3 more
doaj   +1 more source

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Communications Biology, 2021
Rianne van Outersterp et al. combine mass spectrometry, NMR, and infrared ion spectroscopy to identify amino acid-hexose conjugates in the blood plasma from patients with metabolic disorders such as phenylketonuria (PKU).
Rianne E. van Outersterp, Sam J. Moons, Udo F. H. Engelke, Herman Bentlage, Tessa M. A. Peters, Arno van Rooij, Marleen C. D. G. Huigen, Siebolt de Boer, Ed van der Heeft, Leo A. J. Kluijtmans, Clara D. M. van Karnebeek, Ron A. Wevers, Giel Berden, Jos Oomens, Thomas J. Boltje, Karlien L. M. Coene, Jonathan Martens   +16 more
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The Discovery of the Mode of Action of Nitisinone

Metabolites, 2022
This review briefly discusses the discovery of the mode of action of the triketone herbicide, 2-(2-nitro-4-trifluormethylbenzoyl)-1,3-cyclohexanedione and its use as a drug Nitisinone for the treatment of inborn errors of tyrosine metabolism.
Edward A. Lock
doaj   +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