Results 11 to 20 of about 2,797 (225)

A low-excretor biochemical phenotype of glutaric aciduria type I: Identification of novel mutations in the glutaryl coa dehydrogenase gene and review of literature from India

Annals of Indian Academy of Neurology, 2020
Muntaj Shaik, Mahesh Kamate, T P Kruthika-Vinod, Anakala Basappa Vedamurthy   +3 more
doaj   +3 more sources

Glutaric aciduria type I: Pathomechanisms of neurodegeneration [PDF]

Journal of Inherited Metabolic Disease, 1999
AbstractIn organotypic corticostriatal and hippocampal slice cultures from rat brain, 3‐hydroxyglutaric acid but not glutaric and glutaconic acids induced neurodegeneration by activation of NMDA receptors. Electrophysiological investigations (Xenopus laevis oocytes expressing glutamate receptors; rat mixed cortex culture) revealed no direct interaction
Kurt Ullrich, B. Flott‐Rahmel, P. Schluff, Ulrich Mußhoff, Anibh M. Das, Thomas Lücke, Robert Steinfeld, E. Christensen, C. Jakobs, Albert C. Ludolph, Axel Neu, Randall J. Roper   +11 more
openalex   +4 more sources

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I [PDF]

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +3 more sources

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32 [PDF]

International Journal of Neonatal Screening, 2021
There was an error in the original publication [...]
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   +2 more sources

A rare case of type i glutaric aciduria in an early child

Медицинский вестник Юга России, 2020
Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko   +8 more
doaj   +3 more sources

Glutaric Aciduria type I and acute renal failure — Coincidence or causality? [PDF]

Molecular Genetics and Metabolism Reports, 2014
Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae.
Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, Itai M. Pessach, Gideon Paret, Alexander Volkov, Yair Anikster, Danny Lotan   +7 more
doaj   +2 more sources

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report [PDF]

Italian Journal of Pediatrics, 2018
Background Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions.
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo   +3 more
doaj   +2 more sources

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I. [PDF]

Orphanet J Rare Dis, 2015
Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail.
Boy N, Heringer J, Haege G, Glahn EM, Hoffmann GF, Garbade SF, Kölker S, Burgard P.   +7 more
europepmc   +2 more sources

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model [PDF]

Molecular Therapy: Methods & Clinical Development
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage ...
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat   +9 more
doaj   +2 more sources

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Journal of Pediatric Research, 2018
Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues ...
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker   +11 more
doaj   +2 more sources