Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1. [PDF]
Int J Mol Sci, 2023 Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein conformation can affect the biochemical phenotype.
Barroso M +8 more
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Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice. [PDF]
J Biol Chem, 2022 A wide range of protein acyl modifications has been identified on enzymes across various metabolic processes; however, the impact of these modifications remains poorly understood. Protein glutarylation is a recently identified modification that can be nonenzymatically driven by glutaryl-CoA. In mammalian systems, this unique metabolite is only produced
Bhatt DP +14 more
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Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening [PDF]
Acta Crystallographica Section F: Structural Biology Communications, 2011 Glutaric acidemia type 1 is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive movement disorders in humans. The defects in glutaryl-CoA dehydrogenase (GCDH) associated with this disease are thought to increase holoenzyme instability and reduce cofactor binding.
Peter J Myler
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Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins [PDF]
PLoS ONE, 2014 Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the
Hartmut Schlüter +2 more
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A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1. [PDF]
Clin Case Rep, 2021 Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop.
Rayat S, Morovvati S.
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Ann Indian Acad Neurol, 2020 1. Pareja JA, Caminero AB, Serra J, Barriga FJ, Barón M, Dobato JL, et al. Numular headache: A coin-shaped cephalgia. Neurology 2002;58:1678-9. 2. Chen WH, Li TH, Lee LH, Huang CC.
Shaik M +3 more
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Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency [PDF]
Brain, 2007 Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants
Max Wintermark
exaly +6 more sources
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency [PDF]
Pediatric Research, 2006 Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of L-lysine, L-hydroxylysine, and L-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises. Three decades after its description, the natural history and how to treat this disorder are still incompletely understood.
Stefan Kölker +2 more
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Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons. [PDF]
PLoS One, 2013 In glutaric aciduria type 1 (GA1), glutaryl-CoA dehydrogenase (GCDH) deficiency has been shown to be responsible for the accumulation of glutaric acid and striatal degeneration.
Gao J +6 more
europepmc +4 more sources
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1. [PDF]
JIMD RepGlutaric 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).
Cyr D, Boutin M, Maranda B, Waters PJ.
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