Results 131 to 140 of about 3,031 (152)

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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Analysis of the Expression of Murine Glutaryl-CoA Dehydrogenase: In Vitro and in Vivo Studies

Molecular Genetics and Metabolism, 2000
Glutaric acidemia type I (GAI) is an autosomal recessive organic acidemia caused by a mutation in the gene encoding glutaryl-CoA dehydrogenase (GCD). Clinically, GAI is characterized by progressive dystonia, resulting from degeneration of neurons in the caudate and putamen nuclei of the striatum.
M, Woontner, L S, Crnic, D M, Koeller
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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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Development of pathogenic concepts in glutaryl‐CoA dehydrogenase deficiency: The challenge

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.
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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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Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease, 1989
Glutaryl-CoA dehydrogenase (EC 1.3.99.7) participates in the degradative pathways of lysine and tryptophan. Deficiency of this enzyme is the primary defect of glutaric aciduria I (McKusick 23167) (Goodman et al., 1975). Most children with this disorder develop a severe dyskinetic-dystonic syndrome with a sudden onset often precipitated by an infection (
E, Holme, M, Kyllerman, S, Lindstedt
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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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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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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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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of Inherited Metabolic Disease, 2007
SummaryGlutaryl‐CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glutaric acid, 3‐hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine, which can be detected by gas chromatography–mass spectrometry ...
Kolker S, Christensen E, Leonard JV, Greenberg CR, BURLINA A, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Muller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P   +18 more
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