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3-thiaglutaryl-CoA + acceptor
?
-
-
-
?
4-nitrobutyryl-CoA + acceptor
4-nitro-but-2-enoyl-CoA + reduced acceptor
4-nitrobutyryl-CoA + electron transfer protein
? + CO2 + reduced electron transfer protein
-
-
-
?
5-hexenoyl-CoA + acceptor
? + reduced acceptor
-
-
-
-
?
glutaconyl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
glutaconyl-CoA + ferrocenium hexafluorophosphate
crotonyl-CoA + CO2 + ferricenium hexafluorophosphate
glutaramyl-CoA + acceptor
? + reduced acceptor
-
-
-
-
?
glutaryl-CoA + 2,6-dichlorophenol indophenol
crotonoyl-CoA + CO2 + reduced 2,6-dichlorophenol indophenol
glutaryl-CoA + acceptor
crotonoyl-CoA + CO2 + reduced acceptor
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
glutaryl-CoA + electron transfer flavoprotein
(E)-but-2-enoyl-CoA + CO2 + reduced electron transfer flavoprotein
-
-
-
-
?
glutaryl-CoA + electron transfer flavoprotein
crotonoyl-CoA + CO2 + reduced electron transfer flavoprotein
-
-
-
-
?
glutaryl-CoA + electron transfer protein
crotonoyl-CoA + CO2 + reduced electron transfer protein
-
-
-
?
glutaryl-CoA + electron-transfer flavoprotein
crotonyl-CoA + CO2 + reduced electron-transfer flavoprotein
glutaryl-CoA + FAD
crotonoyl-CoA + CO2 + FADH2
glutaryl-CoA + human electron-transfer flavoprotein
crotonyl-CoA + CO2 + reduced human electron-transfer flavoprotein
-
-
-
-
r
glutaryl-CoA + phenazine methosulfate
crotonyl-CoA + CO2 + reduced phenazine methosulfate
-
-
-
-
r
hexanoyl-CoA + acceptor
? + reduced acceptor
-
-
-
-
?
methyl-glutaryl-CoA + acceptor
methyl-crotonyl-CoA + reduced acceptor
-
-
-
-
?
octanoyl-CoA + acceptor
? + reduced acceptor
-
-
-
-
?
pentanoyl-CoA + acceptor
? + reduced acceptor
-
-
-
-
?
proteo-glutaryl-CoA + acceptor
crotonoyl-CoA + CO2 + reduced acceptor
-
-
-
-
?
additional information
?
-
4-nitrobutyryl-CoA + acceptor
4-nitro-but-2-enoyl-CoA + reduced acceptor
-
-
-
?
4-nitrobutyryl-CoA + acceptor
4-nitro-but-2-enoyl-CoA + reduced acceptor
-
-
-
?
glutaconyl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
-
-
r
glutaconyl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
-
-
?
glutaconyl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
involvement of water in catalysis, previously unrecognized and in conflict with a classically held intramolecular 1,3-prototropic shift for protonation of crotonyl-CoA dienolate
-
-
?
glutaconyl-CoA + ferrocenium hexafluorophosphate
crotonyl-CoA + CO2 + ferricenium hexafluorophosphate
-
-
-
-
?
glutaconyl-CoA + ferrocenium hexafluorophosphate
crotonyl-CoA + CO2 + ferricenium hexafluorophosphate
-
the kinetically favorable product is vinylacetyl-CoA, which is further isomerized to the thermodynamically stable normal product crotonyl-CoA
-
ir
glutaryl-CoA + 2,6-dichlorophenol indophenol
crotonoyl-CoA + CO2 + reduced 2,6-dichlorophenol indophenol
-
-
-
-
?
glutaryl-CoA + 2,6-dichlorophenol indophenol
crotonoyl-CoA + CO2 + reduced 2,6-dichlorophenol indophenol
-
-
-
?
glutaryl-CoA + acceptor
crotonoyl-CoA + CO2 + reduced acceptor
-
-
-
-
?
glutaryl-CoA + acceptor
crotonoyl-CoA + CO2 + reduced acceptor
-
-
-
?
glutaryl-CoA + acceptor
crotonoyl-CoA + CO2 + reduced acceptor
-
part of the degradative pathway of the amino acids tryptophan, lysine, and hydroxylysine, enzyme deficiency leads to glutaric aciduria type I leading to nonspecific developmental delay, hypotonia, and macrocephaly with cerebral atrophyof prenatal onset
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
-
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
site directed mutagenesis of binding site and analysis of mechanism
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
acceptors: electron-transfer flavoprotein, phenylmethylsulfonyl fluoride, 2,6-dichlorophenolindophenol, phenazine methosulfate, methylene blue
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
acceptors: electron-transfer flavoprotein, phenylmethylsulfonyl fluoride, 2,6-dichlorophenolindophenol, phenazine methosulfate, methylene blue
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
analysis of mechanism , redox potential
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
analysis of decarboxylation reaction, enzyme has intrinsic enoyl-CoA hydratase activity
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
acceptor: ferrocenium hexafluorophosphate
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
acceptor: ferrocenium hexafluorophosphate
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
involved in mitochondrial degradation of lysine, hydroxylysine, tryptophan
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
analysis of mutations causing glutaric acidemia type I
-
-
?
glutaryl-CoA + acceptor
crotonyl-CoA + CO2 + reduced acceptor
-
deficiency causes glutaric aciduria type I, study on activities in wild type and mutants
-
?
glutaryl-CoA + electron-transfer flavoprotein
crotonyl-CoA + CO2 + reduced electron-transfer flavoprotein
-
-
-
-
r
glutaryl-CoA + electron-transfer flavoprotein
crotonyl-CoA + CO2 + reduced electron-transfer flavoprotein
overall reaction
-
-
?
glutaryl-CoA + FAD
crotonoyl-CoA + CO2 + FADH2
-
-
-
-
?
glutaryl-CoA + FAD
crotonoyl-CoA + CO2 + FADH2
-
-
-
?
glutaryl-CoA + FAD
crotonoyl-CoA + CO2 + FADH2
detection using ferrocenium hexafluorophosphate
-
-
?
additional information
?
-
-
enzyme deficiency leads to glutaric aciduria type I with accumulation of glutarate and 3-hydroxyglutarate with subsequent neuronal destruction during metabolic crises triggered by catabolic stress, treatment with isocaloric glucose and carnitine infusion and suspension of protein intake can recover the patient from apathy
-
-
?
additional information
?
-
-
GCDH is a central enzyme in the catabolic pathway of L-tryptophan, L-lysine, and L-hydroxylysine
-
-
?
additional information
?
-
the decarboxylating and nondecarboxylating, EC 1.3.99.X from Desulfococcus multivorans, capabilities are provided by complex structural changes around the glutaconyl carboxylate group, the key factor being a Tyr to Val exchange strictly conserved between the two GDH types
-
-
?
additional information
?
-
GCDH enzyme activity is measured following the reduction of DCPIP at 600 nm, with either PMS (artificial electron acceptor) or recombinant human ETF (GCDH natural electron acceptor), and glutaryl-CoA as electron donor, in 10 mM HEPES, pH 7.8
-
-
-
additional information
?
-
-
GCDH enzyme activity is measured following the reduction of DCPIP at 600 nm, with either PMS (artificial electron acceptor) or recombinant human ETF (GCDH natural electron acceptor), and glutaryl-CoA as electron donor, in 10 mM HEPES, pH 7.8
-
-
-
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acetyl-coa c-acyltransferase deficiency
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
Acidosis, Lactic
Physiology and pathophysiology of organic acids in cerebrospinal fluid.
acyl-coa dehydrogenase deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Adrenal Hyperplasia, Congenital
Newborn screening.
Alzheimer Disease
Kynurenines impair energy metabolism in rat cerebral cortex.
Brain Diseases
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene.
Brain Diseases
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.
Brain Diseases
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
Brain Diseases
Kynurenines impair energy metabolism in rat cerebral cortex.
Brain Diseases
Lipopolysaccharide-Elicited Systemic Inflammation Induces Selective Vulnerability of Cerebral Cortex and Striatum of Developing Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice to Oxidative Stress.
Brain Injuries
Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.
Brain Injuries
Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: a possible mechanism for brain injury in glutaric aciduria type I.
Congenital Hypothyroidism
Newborn screening.
Cystic Fibrosis
Newborn screening.
Dyskinesias
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
Dyskinesias
Genetic and biochemical study in a patient with glutaric acidemia type I.
Dyskinesias
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Dyskinesias
Recent progress in understanding glutaric acidemias.
Dystonia
Acute profound dystonia in infants with glutaric acidemia.
Dystonia
Animal models for glutaryl-CoA dehydrogenase deficiency.
Dystonia
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
Dystonia
Genetic and biochemical study in a patient with glutaric acidemia type I.
Dystonia
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
Dystonia
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Dystonia
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
Dystonia
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Dystonia
Recent progress in understanding glutaric acidemias.
Dystonia
Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.
glutaryl-coa dehydrogenase (etf) deficiency
3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.
glutaryl-coa dehydrogenase (etf) deficiency
3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats.
glutaryl-coa dehydrogenase (etf) deficiency
3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.
glutaryl-coa dehydrogenase (etf) deficiency
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.
glutaryl-coa dehydrogenase (etf) deficiency
Acute profound dystonia in infants with glutaric acidemia.
glutaryl-coa dehydrogenase (etf) deficiency
Animal models for glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.
glutaryl-coa dehydrogenase (etf) deficiency
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.
glutaryl-coa dehydrogenase (etf) deficiency
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.
glutaryl-coa dehydrogenase (etf) deficiency
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro.
glutaryl-coa dehydrogenase (etf) deficiency
Cerebrospinal fluid investigations for neurometabolic disorders.
glutaryl-coa dehydrogenase (etf) deficiency
Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
glutaryl-coa dehydrogenase (etf) deficiency
Chronic early postnatal glutaric acid administration causes cognitive deficits in the water maze.
glutaryl-coa dehydrogenase (etf) deficiency
Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.
glutaryl-coa dehydrogenase (etf) deficiency
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
glutaryl-coa dehydrogenase (etf) deficiency
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
glutaryl-coa dehydrogenase (etf) deficiency
Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons.
glutaryl-coa dehydrogenase (etf) deficiency
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
glutaryl-coa dehydrogenase (etf) deficiency
Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.
glutaryl-coa dehydrogenase (etf) deficiency
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
glutaryl-coa dehydrogenase (etf) deficiency
Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Energy metabolism is compromised in skeletal muscle of rats chronically-treated with glutaric acid.
glutaryl-coa dehydrogenase (etf) deficiency
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
glutaryl-coa dehydrogenase (etf) deficiency
Evidence that glutaric acid reduces glutamate uptake by cerebral cortex of infant rats.
glutaryl-coa dehydrogenase (etf) deficiency
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).
glutaryl-coa dehydrogenase (etf) deficiency
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
glutaryl-coa dehydrogenase (etf) deficiency
Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaric acid stimulates glutamate binding and astrocytic uptake and inhibits vesicular glutamate uptake in forebrain from young rats.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaric aciduria type I: unusual biochemical presentation.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
glutaryl-coa dehydrogenase (etf) deficiency
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
glutaryl-coa dehydrogenase (etf) deficiency
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
glutaryl-coa dehydrogenase (etf) deficiency
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
glutaryl-coa dehydrogenase (etf) deficiency
IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures.
glutaryl-coa dehydrogenase (etf) deficiency
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
glutaryl-coa dehydrogenase (etf) deficiency
Induction of S100B secretion in C6 astroglial cells by the major metabolites accumulating in glutaric acidemia type I.
glutaryl-coa dehydrogenase (etf) deficiency
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats.
glutaryl-coa dehydrogenase (etf) deficiency
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
glutaryl-coa dehydrogenase (etf) deficiency
Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria).
glutaryl-coa dehydrogenase (etf) deficiency
Kynurenines impair energy metabolism in rat cerebral cortex.
glutaryl-coa dehydrogenase (etf) deficiency
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Malonic aciduria.
glutaryl-coa dehydrogenase (etf) deficiency
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
glutaryl-coa dehydrogenase (etf) deficiency
Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
glutaryl-coa dehydrogenase (etf) deficiency
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Neurological manifestations of organic acid disorders.
glutaryl-coa dehydrogenase (etf) deficiency
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).
glutaryl-coa dehydrogenase (etf) deficiency
Newborn screening.
glutaryl-coa dehydrogenase (etf) deficiency
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Physiology and pathophysiology of organic acids in cerebrospinal fluid.
glutaryl-coa dehydrogenase (etf) deficiency
Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures.
glutaryl-coa dehydrogenase (etf) deficiency
Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.
glutaryl-coa dehydrogenase (etf) deficiency
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum.
glutaryl-coa dehydrogenase (etf) deficiency
Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.
glutaryl-coa dehydrogenase (etf) deficiency
Recent progress in understanding glutaric acidemias.
glutaryl-coa dehydrogenase (etf) deficiency
Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.
glutaryl-coa dehydrogenase (etf) deficiency
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx.
glutaryl-coa dehydrogenase (etf) deficiency
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
glutaryl-coa dehydrogenase (etf) deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
glutaryl-coa dehydrogenase (etf) deficiency
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
glutaryl-coa dehydrogenase (etf) deficiency
Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.
glutaryl-coa dehydrogenase (etf) deficiency
Type I glutaric aciduria, part 1: natural history of 77 patients.
glutaryl-coa dehydrogenase (etf) deficiency
[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
glutaryl-coa dehydrogenase (etf) deficiency
[Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria]
glutaryl-coa dehydrogenase (etf) deficiency
[Glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)]
Huntington Disease
Kynurenines impair energy metabolism in rat cerebral cortex.
isovaleryl-coa dehydrogenase deficiency
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Ketosis
3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening.
Metabolic Diseases
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.
Metabolic Diseases
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Metabolic Diseases
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Metabolic Diseases
Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency.
Metabolic Diseases
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Mevalonate Kinase Deficiency
Neurological manifestations of organic acid disorders.
Mitochondrial Diseases
Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.
Movement Disorders
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
Movement Disorders
Microarray genomic profile of mitochondrial and oxidant response in manganese chloride treated PC12 cells.
Movement Disorders
Recent progress in understanding glutaric acidemias.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Recent progress in understanding glutaric acidemias.
Neurodegenerative Diseases
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Neuroinflammatory Diseases
Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.
Neurologic Manifestations
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
Parkinson Disease
Kynurenines impair energy metabolism in rat cerebral cortex.
Phenylketonurias
Newborn screening.
Refsum Disease
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
Seizures
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neurological manifestations of organic acid disorders.
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A293T
-
naturally occruing mutation in GCDH
A377T
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers
A377V
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers
A389E
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers
A389V
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers
A421T
-
site-directed mutagenesis, altered Km, kcat is only slightly affected, slightly reduced activity compared to the wild-type enzyme
A421V
-
site-directed mutagenesis, altered Km, kcat is only slightly affected, reduced activity compared to the wild-type enzyme
A433E
-
site-directed mutagenesis, nearly inactive mutant
A433V
-
site-directed mutagenesis, altered Km, kcat is only slightly affected, reduced activity compared to the wild-type enzyme
C1296T
-
the mutation leads to glutaryl-CoA dehydrogenase deficiency
F236L/S259P
-
this genotype exhibits 3% GCDH activity
G171W/V410M
-
this genotype exhibits 8% GCDH activity
M1V/R227P
-
this genotype exhibits 4% GCDH activity
M263V
-
analysis of a naturally occurring mutation in a Turkish patient with glutaric aciduria type I
Q59P
-
naturally occruing mutation in GCDH
R161Q/C228R
-
this genotype exhibits 25% GCDH activity
R402W
-
naturally occruing mutation in GCDH
R88A
expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane
R88C
expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane
R88K
expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane
R88M
expression of mutant results in the disruption of mitochondrial architecture forming longitudinal structures composed of stacks of cristae and partial loss of the outer mitochondrial membrane
S225W
-
this genotype exhibits 6% GCDH activity
T385M
naturally occurring mutation from patient with glutaric acidemia type I, dissociation to inactive monomers or dimers
T429M
-
site-directed mutagenesis, altered Km, kcat is only slightly affected, reduced activity compared to the wild-type enzyme
V400M
a naturally occuring GCDH disease-related mutation involved in glutaric aciduria type I (GA-I). Heterozygous patients harbouring the two mutations GCDH-p.Arg227Pro and GCDH-p.Val400Met show increased residual enzymatic activity in relation to homozygous patients with only one of the mutations, suggesting a complementation effect between the two. Thermal stress affects cofactor binding in the GCDH-p.Val400Met mutant. In vivo the p.Val400Met variant displays impaired interaction with the partner ETF, resulting in the lower values observed in patient fibroblasts. The mutant shows 24% reduced activity compared to wild-type
Y155H
mutant exhibits a reduced interaction with dihydrolipoamide succinyl transferase
Y155H/A421V
-
this genotype exhibits 5% GCDH activity
E370D
mutant is more sensitive against inactivation by 3-thiaglutaryl-CoA compared to the wild-type enzyme, irreversible inactivation
E370D
the mutation results in a 24% decrease in the rate constant for proton abstraction at C-2 of 3-thiaglutaryl-CoA, the net rate constant for flavin reduction due to hydride transfer from C-3 of the natural substrate decreases by 81% due to the mutation
E370Q
-
does not catalyze detectable exchange of 4c methyl protons of crotonyl-CoA
E370Q
the dienolate intermediate observed upon decarboxylation of glutaconyl-CoA can be detected with E370Q GCD but not with wild-type, because the crotonyl-CoA dienolate forms a charge-transfer complex with the oxidized FAD and the substitution of a glutamine residue for Glu370 prevents rapid protonation of the dienolate
R227P
-
naturally occurring mutation leading to reduced enzyme activity, mildly altered phenotype, physiological analysis, absence of glutarate and 3-hydroxyglutarate in serum and in urine, overview
R227P
a naturally occuring GCDH disease-related mutation involved in glutaric aciduria type I (GA-I). Heterozygous patients harbouring the two mutations GCDH-p.Arg227Pro and GCDH-p.Val400Met show increased residual enzymatic activity in relation to homozygous patients with only one of the mutations, suggesting a complementation effect between the two. The mutant shows 95% reduced activity compared to wild-type
additional information
studies of 18 missense mutations identified in glutaric aciduria type 1 patients affecting surface amino acids. The stability of half of the GCDH mutants is significantly reduced. None of the mutations impairs the 3D structure of GCDH. All GCDH mutants are correctly translocated into mitochondria
additional information
-
studies of 18 missense mutations identified in glutaric aciduria type 1 patients affecting surface amino acids. The stability of half of the GCDH mutants is significantly reduced. None of the mutations impairs the 3D structure of GCDH. All GCDH mutants are correctly translocated into mitochondria
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Lenich, A.C.; Goodman, S.I.
The purification and characterization of glutaryl-coenzyme A dehydrogenase from porcine and human liver
J. Biol. Chem.
261
4090-4096
1986
Homo sapiens, Sus scrofa
brenda
Liesert, M.; Zschocke, J.; Hoffmann, G.F.; Muhlhauser, N.; Buckel, W.
Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase
J. Inherit. Metab. Dis.
22
256-258
1999
Homo sapiens
brenda
Goodman, S.I.; Kratz, L.E.; DiGiulio, K.A.; Biery, B.J.; Goodman, K.E.; Isaya, G.; Frerman, F.E.
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
Hum. Mol. Genet.
4
1493-1498
1995
Homo sapiens
brenda
Goodman, S.I.; Stein, D.E.; Schlesinger, S.; Christensen, E.; Schwartz, M.; Greenberg, C.R.; Elpeleg, O.N.
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
Hum. Mutat.
12
141-144
1998
Homo sapiens
brenda
Dwyer, T.M.; Rao, K.S.; Goodman, S.I.; Frerman, F.E.
Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase
Biochemistry
39
11488-11499
2000
Homo sapiens
brenda
Westover, J.B.; Goodman, S.I.; Frerman, F.E.
Binding, hydration, and decarboxylation of the reaction intermediate glutaconyl-Coenzyme A by human Glutaryl-CoA dehydrogenase
Biochemistry
40
14106-14114
2001
Homo sapiens
brenda
Rao, K.S.; Vander Velde, D.; Dwyer, T.M.; Goodman, S.I.; Frerman, F.E.
Alternate substrates of human glutaryl-CoA dehydrogenase: Structure and reactivity of substrates, and identification of a novel 2-enoyl-CoA product
Biochemistry
41
1274-1284
2002
Homo sapiens
brenda
Dwyer, T.M.; Rao, K.S.; Westover, J.B.; Kim, J.J.P.; Frerman, F.E.
The function of Arg-94 in the oxidation and decarboxylation of glutaryl-CoA by human glutaryl-CoA dehydrogenase
J. Biol. Chem.
276
133-138
2001
Homo sapiens
brenda
Fu, Z.; Wang, M.; Paschke, R.; Rao, K.S.; Frerman, F.E.; Kim, J.J.
Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions
Biochemistry
43
9674-9684
2004
Homo sapiens (Q92947), Homo sapiens
brenda
Rao, K.S.; Albro, M.; Vockley, J.; Frerman, F.E.
Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity
J. Biol. Chem.
278
26342-26350
2003
Homo sapiens (Q92947), Homo sapiens
brenda
Muehlhausen, C.; Christensen, E.; Schwartz, M.; Muschol, N.; Ullrich, K.; Lukacs, Z.
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I
J. Inherit. Metab. Dis.
26
713-714
2003
Homo sapiens
brenda
Treacy, E.P.; Lee-Chong, A.; Roche, G.; Lynch, B.; Ryan, S.; Goodman, S.
Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
J. Inherit. Metab. Dis.
26
72-74
2003
Homo sapiens
brenda
Westover, J.B.; Goodman, S.I.; Frerman, F.E.
Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer
Mol. Genet. Metab.
79
245-256
2003
Homo sapiens
brenda
Rao, K.S.; Albro, M.; Zirrolli, J.A.; Vander Velde, D.; Jones, D.N.M.; Frerman, F.E.
Protonation of crotonyl-CoA dienolate by human glutaryl-CoA dehydrogenase occurs by solvent-derived protons
Biochemistry
44
13932-13940
2005
Homo sapiens
brenda
Rao, K.S.; Albro, M.; Dwyer, T.M.; Frerman, F.E.
Kinetic mechanism of glutaryl-CoA dehydrogenase
Biochemistry
45
15853-15861
2006
Homo sapiens (Q92947)
brenda
Yeh, C.S.; Wang, J.Y.; Cheng, T.L.; Juan, C.H.; Wu, C.H.; Lin, S.R.
Fatty acid metabolism pathway play an important role in carcinogenesis of human colorectal cancers by Microarray-Bioinformatics analysis
Cancer Lett.
233
297-308
2006
Homo sapiens
brenda
Rao, K.S.; Fu, Z.; Albro, M.; Narayanan, B.; Baddam, S.; Lee, H.J.; Kim, J.J.; Frerman, F.E.
The effect of a Glu370Asp mutation in glutaryl-CoA dehydrogenase on proton transfer to the dienolate intermediate
Biochemistry
46
14468-14477
2007
Homo sapiens (Q92947)
brenda
Strauss, K.A.; Lazovic, J.; Wintermark, M.; Morton, D.H.
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency
Brain
130
1905-1920
2007
Homo sapiens
brenda
Koelker, S.; Christensen, E.; Leonard, J.V.; Greenberg, C.R.; Burlina, A.B.; Burlina, A.P.; Dixon, M.; Duran, M.; Goodman, S.I.; Koeller, D.M.; Mueller, E.; Naughten, E.R.; Neumaier-Probst, E.; Okun, J.G.; Kyllerman, M.; Surtees, R.A.; Wilcken, B.; Hoffmann, G.F.; Burgard, P.
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
J. Inherit. Metab. Dis.
30
5-22
2007
Homo sapiens
brenda
Sauer, S.W.
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency
J. Inherit. Metab. Dis.
30
673-680
2007
Homo sapiens
brenda
Lopez-Laso, E.; Garcia-Villoria, J.; Martin, E.; Duque, P.; Cano, A.; Ribes, A.
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency
J. Inherit. Metab. Dis.
30
979
2007
Homo sapiens
brenda
McClelland Verity , M.V.; Gissen Pau, G.P.; Hendriksz Chri, H.C.; Chakrapani Anupa, C.A.
Glutaryl-CoA dehydrogenase deficiency
Pediatr. Res.
61
134-135
2007
Homo sapiens
-
brenda
Koelker, S.; Garbade, S.F.; Boy, N.; Maier, E.M.; Meissner, T.; Muehlhausen, C.; Hennermann, J.B.; Luecke, T.; Haeberle, J.; Baumkoetter, J.; Haller, W.; Muller, E.; Zschocke, J.; Burgard, P.; Hoffmann, G.F.
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
Pediatr. Res.
62
357-363
2007
Homo sapiens
brenda
Wischgoll, S.; Demmer, U.; Warkentin, E.; Guenther, R.; Boll, M.; Ermler, U.
Structural basis for promoting and preventing decarboxylation in glutaryl-coenzyme A dehydrogenases
Biochemistry
49
5350-5357
2010
Homo sapiens (Q92947)
brenda
Strauss, K.A.; Donnelly, P.; Wintermark, M.
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency
Brain
133
76-92
2010
Homo sapiens
brenda
van der Watt, G.; Owen, E.P.; Berman, P.; Meldau, S.; Watermeyer, N.; Olpin, S.E.; Manning, N.J.; Baumgarten, I.; Leisegang, F.; Henderson, H.
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans
Mol. Genet. Metab.
101
178-182
2010
Homo sapiens
brenda
Begley, D.W.; Davies, D.R.; Hartley, R.C.; Hewitt, S.N.; Rychel, A.L.; Myler, P.J.; Van Voorhis, W.C.; Staker, B.L.; Stewart, L.J.
Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening
Acta Crystallogr. Sect. F
67
1060-1069
2011
Homo sapiens, Burkholderia pseudomallei (Q3JP94), Burkholderia pseudomallei, Burkholderia pseudomallei 1710b (Q3JP94)
brenda
Schmiesing, J.; Lohmoeller, B.; Schweizer, M.; Tidow, H.; Gersting, S.W.; Muntau, A.C.; Braulke, T.; Muehlhausen, C.
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture
Hum. Mol. Genet.
26
538-551
2017
Homo sapiens (Q92947), Homo sapiens
brenda
Schmiesing, J.; Schlueter, H.; Ullrich, K.; Braulke, T.; Muehlhausen, C.
Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
PLoS ONE
9
e87715
2014
Homo sapiens (Q92947), Homo sapiens
brenda
Ribeiro, J.; Lucas, T.; Bross, P.; Gomes, C.; Henriques, B.
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance
Biochim. Biophys. Acta
1868
140269
2020
Homo sapiens (Q92947), Homo sapiens
brenda