Results 171 to 180 of about 5,746 (195)

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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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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Mitochondrialer Import und Protein-Protein-Interaktionsnetzwerk varianter Glutaryl-CoA-Dehydrogenase

2021
Zirka 99 % des mitochondrialen Proteoms sind nukleär kodiert. Mitochondriale Matrixproteine werden als Präkursor-Proteine im Cytosol synthetisiert und post-translational in das Mitochondrium importiert, um dort nach Abspaltung eines Signalpeptids in reife und funktionelle Proteine prozessiert zu werden. Die cytosolischen molekularen Chaperone Hsc70 und
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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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