Results 1 to 10 of about 10,268 (119)
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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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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SCREENING OF EGYPTIAN PATEINTS SUFFERING FROM INBORN AMINO ACID METABOLIC DISORDERS [PDF]
Journal of Environmental Science, 2017 Diagnosis of aminoacidopathies constitutes a challenge in a developing country with high positive consanguinity rate and no newborn screening programs.
ALGabri Sammer, S. +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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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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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 +16 more
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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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Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby
Asian Journal of Medical Sciences, 2013 Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
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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 +3 more
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