Results 211 to 220 of about 17,667 (261)
Some of the next articles are maybe not open access.
The segregation of glutaryl‐CoA dehydrogenase deficiency and Refsum syndrome in a family
Journal of Inherited Metabolic Disease, 1994Glutaryl-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).
N. J. Brandt +4 more
openaire +3 more sources
Biochemistry and bioenergetics of glutaryl‐CoA dehydrogenase deficiency
Journal of Inherited Metabolic Disease, 2007SummaryGlutaryl‐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 ...
openaire +3 more sources
Glutaryl-CoA Dehydrogenase Deficiency Presenting as 3-Hydroxyglutaric Aciduria
Molecular Genetics and Metabolism, 1999Two 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 ...
Donna E. Stein +5 more
openaire +3 more sources
Spectral and electrochemical properties of glutaryl-CoA dehydrogenase from Paracoccus denitrificans
Biochemistry, 1990Studies 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 ...
Colleen M. Byron +2 more
openaire +3 more sources
Analysis of the Expression of Murine Glutaryl-CoA Dehydrogenase: In Vitro and in Vivo Studies
Molecular Genetics and Metabolism, 2000Glutaric 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.
David M. Koeller +2 more
openaire +3 more sources
Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency
Journal of Inherited Metabolic Disease, 1989Glutaryl-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 (
Sven Lindstedt +2 more
openaire +3 more sources
Structural and functional effects of clinical missense mutations on glutaryl-CoA dehydrogenase
Free Radical Biology and Medicine, 2018Glutaric 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 ...
Tânia G. Lucas +4 more
openaire +2 more sources
Human Molecular Genetics, 1995
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I. The mutant protein is expressed at the same level as the wild
S. Goodman +6 more
semanticscholar +1 more source
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I. The mutant protein is expressed at the same level as the wild
S. Goodman +6 more
semanticscholar +1 more source
Development of pathogenic concepts in glutaryl‐CoA dehydrogenase deficiency: The challenge
Journal of Inherited Metabolic Disease, 2004AbstractSummary: 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.
openaire +3 more sources