Results 31 to 40 of about 5,871 (233)

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

JIMD Reports, 2021
Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma.
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli   +14 more
doaj   +1 more source

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

International Journal of Neonatal Screening, 2021
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut   +13 more
doaj   +1 more source

Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management

Annals of Indian Academy of Neurology, 2021
Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase.
Leema P Cornelius, Vivekasaravanan Raju, Asir Julin   +2 more
doaj   +1 more source

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

Cell Reports, 2018
Summary: Lysine glutarylation (Kglu) of mitochondrial proteins is associated with glutaryl-CoA dehydrogenase (GCDH) deficiency, which impairs lysine/tryptophan degradation and causes destruction of striatal neurons during catabolic crisis with subsequent
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke   +14 more
doaj   +1 more source

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA).
Carolina Arias, Isabel Hidalgo, María Florencia Salazar, Juan Francisco Cabello, Felipe Peñaloza, Pilar Peredo, Alf Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej   +9 more
doaj   +1 more source

The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons [PDF]

, 2006
Multi-objective evolutionary algorithms (MOEAs) have become increasingly popular as multi-objective problem solving techniques. Most studies of MOEAs are empirical. Only recently, a few theoretical results have appeared.
Katja Brauburger, Gerhard Burckhardt, Birgitta C. Burckhardt   +2 more
core   +3 more sources

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

JIMD Reports, 2019
3‐Hydroxyglutaric acid (3‐OH‐GA) in urine has been identified as the most reliable diagnostic marker for glutaric aciduria type I (GA I). We showed that hydratation of glutaconyl‐CoA to 3‐hydroxyglutaryl‐CoA, which is subsequently hydrolyzed to 3‐OH‐GA ...
Verena Peters, Marina Morath, Matthias Mack, Michael Liesert, Wolfgang Buckel, Georg F. Hoffmann, Jerry Vockley, Sandro Ghisla, Johannes Zschocke   +8 more
doaj   +1 more source

Dystonia and Infantile Glutaric Acidemia

Pediatric Neurology Briefs, 1989
Glutaric acidemia, an autosomal recessively inherited disease caused by deficiency of glutaryl-CoA dehydrogenase, was manifested by acute dystonia in 3 infants reported from the Children's Hospital of Pittsburgh, Pennsylvania.
J Gordon Millichap
doaj   +1 more source

GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN

Khyber Medical University Journal, 2022
INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry ...
Noshaba Noor, Hira Waseem
doaj   +1 more source