Results 181 to 190 of about 5,871 (233)

Biochemistry and bioenergetics of glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2007
SummaryGlutaryl‐CoA dehydrogenase (GCDH) is a central enzyme in the catabolic pathway of l‐tryptophan, l‐lysine, and l‐hydroxylysine which catalyses the oxidative decarboxylation of glutaryl‐CoA to crotonyl‐CoA and CO2. Glutaryl‐CoA dehydrogenase deficiency (GDD) is an autosomal recessive disease characterized by the accumulation of glutaric and 3 ...
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Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: We have investigated the correlation between genotype and phenotype in a large number of patients with glutaric aciduria type I (GA I). The deficiency of glutaryl‐CoA dehydrogenase has been confirmed in the Rigshospitalet's laboratory in 215 patients since 1975. Most of the patients were of European ancestry. Complete absence of enzyme
E, Christensen, A, Ribes, B, Merinero, J, Zschocke   +3 more
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Neuroradiological findings in glutaric aciduria type I (glutaryl‐CoA dehydrogenase deficiency)

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases presented at the 3rd International Workshop on Glutaryl‐CoA Dehydrogenase Deficiency together with a review of previously reported neuroimaging characteristics of GA I.
E, Neumaier-Probst, I, Harting, A, Seitz, C, Ding, S, Kolker   +4 more
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Spectral and electrochemical properties of glutaryl-CoA dehydrogenase from Paracoccus denitrificans

Biochemistry, 1990
Studies of the spectral (UV/vis and resonance Raman) and electrochemical properties of the FAD-containing enzyme glutaryl-CoA dehydrogenase (GCD) from Paracoccus denitrificans reveal that the properties of the oxidized enzyme (GCDox) appear to be invariant from those properties known for other acyl-CoA dehydrogenases such as mammalian general acyl-CoA ...
C M, Byron, M T, Stankovich, M, Husain
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Modulation of glutamatergic and GABAergic neurotransmission in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Although the precise mechanisms underlying the CNS degeneration of patients with glutaryl‐CoA dehydrogenase (GCDH) deficiency are still the subject of intense debate, many studies have highlighted that excitotoxicity plays a fundamental role in the neuropathology of this disease, particularly involving the N‐methyl‐D‐aspartate receptor
M, Wajner, S, Kölker, D O, Souza, G F, Hoffmann, C F, de Mello   +4 more
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Looking forward—An evidence‐based approach to glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Three decades after the first description of glutaryl‐CoA dehydrogenase deficiency, major progress has been achieved in the prevention of acute striatal necrosis and neurological sequelae in affected children, if diagnosis is made early and treatment is started before manifestation of acute encephalopathic crises. However, all concepts
S, Kölker, P, Burgard, J G, Okun, A, Schulze-Bergkamen, B, Assmann, C R, Greenberg, G F, Hoffmann   +6 more
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The segregation of glutaryl‐CoA dehydrogenase deficiency and Refsum syndrome in a family

Journal of Inherited Metabolic Disease, 1994
Glutaryl-CoA dehydrogenase (EC 1.3.99.7) deficiency, glutaric aciduria type 1 (GDH deficiency, McKusick 231670), is an autosomal recessively inherited inborn error of the metabolism of the amino acids lysine, hydroxylysine and tryptophan (Goodman and Frerman 1989).
E, Christensen, N J, Brandt, T, Rosenberg, K, Bömers, C, Jakobs   +4 more
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Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency

Neuropediatrics, 1996
Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens including glucose and electrolyte infusions during acute illnesses, oral carnitine supplementation and/or a low-protein or lysine-restricted diet have been ...
Hoffmann GF, Athanassopoulos S, BURLINA A, Duran M, De Klerk JBC, Lehnerf W, Leonard JV, Monavari AA, M??ller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E   +14 more
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Functional characterization of rat glutaryl-CoA dehydrogenase and its comparison with straight-chain acyl-CoA dehydrogenase

Bioorganic & Medicinal Chemistry Letters, 2011
Glutaryl-CoA dehydrogenase catalyzes the oxidative decarboxylation of the γ-carboxylate of the substrate, glutaryl-CoA, to yield crotonyl-CoA and CO(2). The enzyme is a member of the acyl-CoA dehydrogenase (ACD) family of flavoproteins. In the present study, the catalytic properties of this enzyme, including its substrate specificity, isomerase ...
Long, Wu, Yuqin, Qiao, Jinbo, Gao, Guisheng, Deng, Wenhua, Yu, Gong, Chen, Ding, Li   +6 more
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Structural and functional effects of clinical missense mutations on glutaryl-CoA dehydrogenase

Free Radical Biology and Medicine, 2018
Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes for Glutaryl-CoA Dehydrogenase, a flavoprotein involved in tryptophan, lysine and hydroxylysine metabolism. Even though the clinical features for the disorder are broadly described, studies regarding the impact of the ...
Joana V. Ribeiro, Tânia G. Lucas, Peter Bross, Cláudio M. Gomes, Bárbara J. Henriques   +4 more
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