Results 1 to 10 of about 9,770 (162)

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   +3 more sources

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding [PDF]

BMC Medical Genomics
Background 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, Ana María Zarante-Bahamón   +1 more
doaj   +2 more sources

Inborn Errors of Sulfur-Containing Amino Acid Metabolism [PDF]

Journal of Nutrition, 2006
Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver. This combined pathway was formulated first to explain observations in subjects with homocystinuria caused by cystathionine synthase deficiency.
exaly   +3 more sources

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders [PDF]

Talanta Open
Advancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran, Madan Gopal Ramarajan, Vykuntaraju Kammasandra Nanjundagowda, Aruna Gowdra, Jayesh Warade, Anikha Bellad, Kannan Rangiah   +6 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   +1 more source

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., Mohamed M. M., Zaki O. K., Abd El-Khalek Heba, S.   +3 more
doaj   +1 more source

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

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   +1 more source

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   +1 more source

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
doaj   +1 more source