Disease on EC 1.3.8.6 - glutaryl-CoA dehydrogenase (ETF)
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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.
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.
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
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.
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
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
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
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
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: 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
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
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)]
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.
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.
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.
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.
Refsum Disease
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neurological manifestations of organic acid disorders.
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