Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease [PDF]
MetabolitesHepatic 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 +2 more
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Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy [PDF]
ChildrenBackground/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized.
Bengisu Guner Yilmaz +13 more
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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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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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Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 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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The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 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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