Results 1 to 10 of about 21,421 (302)

Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

Disease Models & Mechanisms, 2023
Amino acids are organic molecules that serve as basic substrates for protein synthesis and have additional key roles in a diverse array of cellular functions, including cell signaling, gene expression, energy production and molecular biosynthesis ...
Shira G. Ziegler, Jiyoung Kim, Jeffrey T. Ehmsen, Hilary J. Vernon   +3 more
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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   +2 more sources

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
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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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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
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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
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Inborn Errors of Sulfur-Containing Amino Acid Metabolism [PDF]

The Journal of Nutrition, 2006
Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver. This combined pathway was formulated first to explain observations in subjects with homocystinuria caused by cystathionine synthase deficiency.
J. Finkelstein
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Metabolic Diet App Suite for inborn errors of amino acid metabolism

Molecular Genetics and Metabolism, 2016
An increasing number of rare inborn errors of metabolism (IEMs) are amenable to targeted metabolic nutrition therapy. Daily adherence is important to attain metabolic control and prevent organ damage. This is challenging however, given the lack of information of disorder specific nutrient content of foods, the limited availability and cost of specialty
Ho, Gloria, Ueda, Keiko, Houben, Roderick F. A., Joa, Jeff, Giezen, Alette, Cheng, Barbara, van Karnebeek, Clara D. M.   +6 more
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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
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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