Results 11 to 20 of about 2,001,857 (129)

Sulfite-induced protein radical formation in LPS aerosol-challenged mice: Implications for sulfite sensitivity in human lung disease

Redox Biology, 2018
Exposure to (bi)sulfite (HSO3–) and sulfite (SO32–) has been shown to induce a wide range of adverse reactions in sensitive individuals. Studies have shown that peroxidase-catalyzed oxidation of (bi)sulfite leads to formation of several reactive free ...
Ashutosh Kumar, Mathilde Triquigneaux, Jennifer Madenspacher, Kalina Ranguelova, John J. Bang, Michael B. Fessler, Ronald P. Mason   +6 more
doaj   +2 more sources

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. [PDF]

Cold Spring Harb Mol Case Stud, 2021
Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that were ...
Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF.   +8 more
europepmc   +2 more sources

Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency.

International Journal of Medical Sciences and Academic Research, 2023
INTRODUCTION: We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid ...
Dr.shruti dhale , Dr.Anjali Pawar, Dr.shubham Meshram , Dr.Shantanu Sarpate   +3 more
doaj   +1 more source

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release. [PDF]

J Clin Invest
Sulfite oxidase (SOX) deficiency is a rare inborn error of cysteine metabolism resulting in severe neurological damage. In patients, sulfite accumulates to toxic levels, causing a rise in the downstream products S-sulfocysteine, which mediates ...
Fu CY, Kohl JB, Liebsch F, D'Andrea D, Ditrói T, Ogata S, Neuser F, Mai M, Mellis AT, Kouroussis E, Morita M, Gehling T, Santamaria-Araujo JA, Yeo SY, Endepols H, Křížková M, Kozich V, Krueger M, Hennermann JB, Barayeu U, Akaike T, Nagy P, Filipovic M, Schwarz G.   +23 more
europepmc   +2 more sources

Novel Gene Abnormality in Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome)

Translation, 2023
Introduction: Doose Syndrome is a myoclonic-atonic seizure disorder most prominent in the pediatric population. Several common genetic mutations have been identified.
Rayan Magsi, Casey Ryan, Ajaz Sheikh, Mariam Noor, Naeem Mahfooz   +4 more
doaj   +1 more source

Inherited metabolic epilepsies-established diseases, new approaches. [PDF]

Epilepsia Open
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Tokatly Latzer I, Pearl PL.
europepmc   +2 more sources

Isolated sulfite oxidase deficiency

, 2005
Isolated sulfite oxidase deficiency is a very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase ...
Senbil, Nesrin, Tosun, Mahya Sultan, EZGÜ, FATİH SÜHEYL, Gurer, Yahya Kemal Yavuz   +3 more
core   +2 more sources

HIF-1 Has a Central Role in Caenorhabditis elegans Organismal Response to Selenium

Frontiers in Genetics, 2020
Selenium is a trace element for most organisms; its deficiency and excess are detrimental. Selenium beneficial effects are mainly due to the role of the 21st genetically encoded amino acid selenocysteine (Sec).
Laura Romanelli-Credrez, Maria Doitsidou, Mark J. Alkema, Gustavo Salinas   +3 more
doaj   +1 more source

S-Sulfocysteine Induces Seizure-Like Behaviors in Zebrafish

Frontiers in Pharmacology, 2019
Sulfite is a neurotoxin, which is detoxified by the molybdenum cofactor (Moco)-dependent enzyme sulfite oxidase (SOX). In humans, SOX deficiency causes the formation of the glutamate analog S-Sulfocysteine (SSC) resulting in a constant overstimulation of
Jennifer Plate, Wiebke A. Sassen, Ahmed H. Hassan, Franziska Lehne, Reinhard W. Köster, Tobias Kruse   +5 more
doaj   +1 more source

Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation

Journal of Inborn Errors of Metabolism and Screening, 2019
Isolated sulfite oxidase deficiency (ISOD) is a devastating, neurometabolic disorder caused by mutations in the SUOX gene necessary for the final step in the sulfur-containing amino acid catabolic pathway.
Monica Boyer, Mary Sowa, Raymond Wang, Jose Abdenur   +3 more
doaj   +1 more source