Results 1 to 10 of about 2,797 (225)

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]

Orphanet Journal of Rare Diseases, 2017
Background Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting   +6 more
doaj   +7 more sources

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

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   +4 more sources

Rescue of glutaric aciduria type I in mice by liver-directed therapies. [PDF]

Sci Transl Med, 2023
Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism.
Barzi M, Johnson CG, Chen T, Rodriguiz RM, Hemmingsen M, Gonzalez TJ, Rosales A, Beasley J, Peck CK, Ma Y, Stiles AR, Wood TC, Maeso-Diaz R, Diehl AM, Young SP, Everitt JI, Wetsel WC, Lagor WR, Bissig-Choisat B, Asokan A, El-Gharbawy A, Bissig KD.   +21 more
europepmc   +5 more sources

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]

PLoS ONE, 2013
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé, Diana Ballhausen   +5 more
doaj   +4 more sources

Audiological and otologic manifestations of glutaric aciduria type I [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study
Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu, Yen-Fu Cheng   +8 more
doaj   +5 more sources

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

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   +4 more sources

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails [PDF]

Italian Journal of Pediatrics
Background Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging ...
Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D’Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B. Burlina   +8 more
doaj   +4 more sources

Glutaric aciduria type I: A treatable neurometabolic disorder

Annals of Indian Academy of Neurology, 2012
Background and Objectives: Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India.
Mahesh Kamate, Vishwanath Patil, Vivek Chetal, Pavan Darak, Virupaxi Hattiholi   +4 more
doaj   +4 more sources

Diagnosis and management of glutaric aciduria type I--revised recommendations. [PDF]

J Inherit Metab Dis, 2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P.   +18 more
europepmc   +9 more sources

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH [PDF]

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +2 more sources