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Disease on EC 1.3.8.6 - glutaryl-CoA dehydrogenase (ETF)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
Kynurenines impair energy metabolism in rat cerebral cortex.
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.
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.
Genetic and biochemical study in a patient with glutaric acidemia type I.
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Recent progress in understanding glutaric acidemias.
Dystonia
Acute profound dystonia in infants with glutaric acidemia.
Animal models for glutaryl-CoA dehydrogenase 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.
Genetic and biochemical study in a patient with glutaric acidemia type I.
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 deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Recent progress in understanding glutaric acidemias.
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.
3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats.
3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.
Acute profound dystonia in infants with glutaric acidemia.
Animal models for glutaryl-CoA dehydrogenase deficiency.
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
Cerebral organic acid disorders induce neuronal damage via excitotoxic organic acids in vitro.
Cerebrospinal fluid investigations for neurometabolic disorders.
Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
Chronic early postnatal glutaric acid administration causes cognitive deficits in the water maze.
Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency.
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons.
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge.
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency.
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
Energy metabolism is compromised in skeletal muscle of rats chronically-treated with glutaric acid.
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
Evidence that glutaric acid reduces glutamate uptake by cerebral cortex of infant rats.
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1).
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency.
Glutaric acid stimulates glutamate binding and astrocytic uptake and inhibits vesicular glutamate uptake in forebrain from young rats.
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
Glutaric aciduria type I: unusual biochemical presentation.
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 deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.
Glutaryl-CoA dehydrogenase deficiency.
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
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.
IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures.
Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.
Induction of S100B secretion in C6 astroglial cells by the major metabolites accumulating in glutaric acidemia type I.
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.
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats.
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases.
Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria).
Kynurenines impair energy metabolism in rat cerebral cortex.
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency.
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
Malonic aciduria.
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.
Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency.
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency.
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Neurological manifestations of organic acid disorders.
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).
Newborn screening.
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency.
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Physiology and pathophysiology of organic acids in cerebrospinal fluid.
Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures.
Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling.
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum.
Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice.
Recent progress in understanding glutaric acidemias.
Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase 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.
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene.
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.
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.
Type I glutaric aciduria, part 1: natural history of 77 patients.
[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
[Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria]
[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.
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency.
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.
Microarray genomic profile of mitochondrial and oxidant response in manganese chloride treated PC12 cells.
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.
Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
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.