Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism [PDF]
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 +16 more
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Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry [PDF]
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 +3 more
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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
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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 ...
Ekram M. Fateen +3 more
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Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances
Disease Models & Mechanisms, 2023 ABSTRACT 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 +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 +3 more
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Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism. [PDF]
Scientific Reports, 2020 Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction.
Alcántara Horrillo, Soledad +17 more
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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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Residência Pediátrica, 2023 INTRODUCTION: Leucinosis or Maple Syrup Disease (MSD) is an innate metabolism error caused by a deficiency in the activity of the alpha-keto acid-dehydrogenase enzyme complex, which leads to the accumulation of essential branched-chain amino acids ...
Bruna Duque de Almeida Braga +4 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
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