Results 161 to 170 of about 5,746 (195)

Neonatal screening for glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: Acute encephalopathic crisis in glutaryl‐CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death.
M, Lindner, S, Kölker, A, Schulze, E, Christensen, C R, Greenberg, G F, Hoffmann   +5 more
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Maintenance treatment of glutaryl‐CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl‐CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl‐CoA dehydrogenase (GCDH) deficiency.
C, Mühlhausen, G F, Hoffmann, K A, Strauss, S, Kölker, J G, Okun, C R, Greenberg, E R, Naughten, K, Ullrich   +7 more
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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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Pathomechanisms of neurodegeneration in glutaryl‐CoA dehydrogenase deficiency

Annals of Neurology, 2003
AbstractGlutaryl‐CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly neurological presentation. Biochemically, it is characterized by an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3‐hydroxyglutaric acid.
Stefan, Kölker, David M, Koeller, Jürgen G, Okun, Georg F, Hoffmann   +3 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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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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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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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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