Results 121 to 130 of about 3,031 (152)

Animal models for glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary:In vitro studies suggest that excitotoxic cell damage is an underlying mechanism for the acute striatal damage in glutaryl‐CoA dehydrogenase (GCDH) deficiency. It is believed to result from an imbalance of glutamatergic and GABAergic neurotransmission induced by the accumulating organic acids 3‐hydroxyglutaric acid (3‐OH‐GA) and to a ...
D M, Koeller, S, Sauer, M, Wajner, C F, de Mello, S I, Goodman, M, Woontner, C, Mühlhausen, J G, Okun, S, Kölker   +8 more
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Excitotoxicity and bioenergetics in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Glutaryl‐CoA dehydrogenase deficiency is an inherited organic acid disorder with predominantly neurological presentation. The biochemical hallmark of this disease is an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3‐hydroxyglutaric acid.
S, Kölker, D M, Koeller, S, Sauer, F, Hörster, M A, Schwab, G F, Hoffmann, K, Ullrich, J G, Okun   +7 more
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Challenges for basic research in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: During the last decades, efforts have been made to elucidate the complex mechanisms underlying neuronal damage in glutaryl‐CoA dehydrogenase deficiency. A combination of in vitro and in vivo investigations have facilitated the development of several hypotheses, including the probable pathogenic role of accumulating glutaric acid and 3 ...
S, Kölker, K A, Strauss, S I, Goodman, G F, Hoffmann, J G, Okun, D M, Koeller   +5 more
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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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A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: Application in the genotyping of the glutaryl-CoA dehydrogenase locus

Clinica Chimica Acta, 1993
A method described earlier for measuring glutaryl-CoA dehydrogenase activity in fibroblasts has been further developed. This assay uses the detritiation of [2,3,4-3H]glutaryl-CoA both with and without added artificial electron acceptors as a measure of glutaryl-CoA dehydrogenase activity.
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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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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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Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Nuclear magnetic resonance (NMR) spectroscopy is a safe, noninvasive method that is the preferred technique for in vivo analysis of specific chemical compounds in localized brain regions. Besides quantification of compounds, NMR spectroscopy allows the detailed analysis of neurotransmitter, glucose and lactate metabolism following ...
O A, Bodamer, S, Gruber, S, Stöckler-Ipsiroglu   +2 more
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Glutaryl-CoA Dehydrogenase Deficiency Presenting as 3-Hydroxyglutaric Aciduria

Molecular Genetics and Metabolism, 1999
Two siblings who were found to have deficiency of glutaryl-CoA dehydrogenase were identified by the presence of large amounts of 3-hydroxyglutaric acid in the urine. Patients with this disease, termed glutaric acidemia or glutaric acidemia Type I, usually present with large amounts of glutaric acid in the urine, and amounts of 3-hydroxyglutaric acid ...
W L, Nyhan, J, Zschocke, G, Hoffmann, D E, Stein, L, Bao, S, Goodman   +5 more
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Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurology, 2005
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
S, Külkens, I, Harting, S, Sauer, J, Zschocke, G F, Hoffmann, S, Gruber, O A, Bodamer, S, Kölker   +7 more
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