Results 71 to 80 of about 3,031 (152)

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   +1 more source

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.

PLoS ONE, 2014
We determined mRNA expression of the ionotropic glutamate receptors NMDA (NR1, NR2A and NR2B subunits), AMPA (GluR2 subunit) and kainate (GluR6 subunit), as well as of the glutamate transporters GLAST and GLT1 in cerebral cortex and striatum of wild type
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M Koeller, Michael Woontner, Stephen I Goodman, Diogo Onofre Gomes de Souza, Moacir Wajner   +9 more
doaj   +1 more source

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management

Acta Médica Portuguesa
Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, Patrícia Janeiro, Ana Gaspar   +4 more
doaj   +1 more source

Microbial diversity and metabolic pathways linked to benzene degradation in petrochemical-polluted groundwater

Environment International
The rapid advance in shotgun metagenome sequencing has enabled us to identify uncultivated functional microorganisms in polluted environments. While aerobic petrochemical-degrading pathways have been extensively studied, the anaerobic mechanisms remain ...
Ruihuan Zhang, Zhencheng Ye, Xue Guo, Yunfeng Yang, Guanghe Li   +4 more
doaj   +1 more source

Sodium p-perfluorous nonenoxybenzenesulfonate directly targets on mitochondrial proteins to disrupt metabolic cascade and promote nephrotoxicity

Environment International
Chronic kidney disease is largely driven by environmental exposure such as per- and polyfluoroalkyl substances (PFAS). Mitochondrial proteins, whose homeostasis can be affected by PFAS, largely participate in the progression of renal damage. Despite this
Yang Lyu, Ruyu Guo, Bingxin Gui, Wenjue Zhong, Lingyan Zhu   +4 more
doaj   +1 more source

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
doaj   +1 more source

Glutaryl-CoA dehydrogenase deficiency [PDF]

, 2020
openaire   +1 more source

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

JIMD Reports
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG).
Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters   +3 more
doaj   +1 more source

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. [PDF]

Mov Disord Clin Pract, 2016
Ghatan S, Kokoszka MA, Ranney AM, Strauss KA.   +3 more
europepmc   +1 more source

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. [PDF]

J Pediatr Genet, 2017
Tp KV, Muntaj S, Devaraju KS, Kamate M, Vedamurthy AB.   +4 more
europepmc   +1 more source