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 [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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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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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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Molecular Genetics and Metabolism, 2006 Contains fulltext : 49952.pdf (Publisher’s version ) (Closed access)Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development ...
G Hornstra +2 more
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Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding [PDF]
BMC Medical GenomicsBackground Alkaptonuria (AKU) is a rare autosomal recessive inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD), its deficiency results in homogentisic acid (HGA) accumulation, which oxidizes to form melanin-like ...
María Camila León – Sanabria +1 more
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Earwax: A potentially useful medium to identify inborn errors of metabolism? [PDF]
JIMD Reports, 2020 Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych +3 more
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Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum [PDF]
Frontiers in Cell and Developmental Biology, 2016 Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders +2 more
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Out-of-pocket health expenditures in patients living with ınborn errors of metabolism
Orphanet Journal of Rare Diseases, 2023 Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz +2 more
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