Results 11 to 20 of about 19,497 (183)

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
doaj   +2 more sources

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
doaj   +2 more sources

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
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   +2 more sources

Fifteen years experience: Egyptian metabolic lab [PDF]

Egyptian Journal of Medical Human Genetics, 2014
Background: Inborn errors of metabolism (IEM) are single gene disorders responsible for abnormalities in the synthesis or catabolism of proteins, carbohydrates and fats by means of defective enzymes or transport proteins which results in a block of the ...
Abdallah, Z Y, Fateen, E M, Ibrahim, M S
core   +4 more sources

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

Healthc Inform Res
Objectives Disorders of amino acid metabolism fall under the category of inborn errors of metabolism that can be managed with a protein-restricted diet.
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +2 more sources

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

Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

Nutrients, 2023
Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM and a special formula free of disease-related amino acids (SF-AA) in infants with inborn errors
I. Vitoria-Miñana, María-Luz Couce, D. González-Lamuño, Mónica García-Peris, P. Correcher-Medina   +4 more
semanticscholar   +1 more source

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Molecular Genetics & Genomic Medicine, 2023
Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial neurometabolic disorder of energy deficit, with incidence of about 1 in 42,000 live births annually in the USA.
Anisha Verma, April N Lehman, Hatice Gokcan, L. Cropcho, Danielle Black, S. Dobrowolski, Jerry Vockley, J. Bedoyan   +7 more
semanticscholar   +1 more source