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Glutaric aciduria

Known as: Glutaricaciduria, aciduria glutaric 
An increased concentration of glutaric acid in the urine. [HPO:gcarletti]
National Institutes of Health

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Glutaric aciduria, type 1

Papers overview

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Highly Cited
2011
Highly Cited
2011
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.
Highly Cited
2009
Highly Cited
2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism… 
Highly Cited
2005
Highly Cited
2005
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Review
2004
Review
2004
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
Summary: This article summarizes the magnetic resonance imaging features of glutaric aciduria type I (GA I) based on the cases… 
Review
2003
Review
2003
Type I glutaric aciduria, part 2: A model of acute striatal necrosis
Type I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises… 
Highly Cited
1999
Highly Cited
1999
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I
Glutaric aciduria type I (GA I) is a recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). The… 
Highly Cited
1999
Highly Cited
1999
Glutaric aciduria and suspected child abuse
Subdural and retinal haemorrhages in young children without an appropriate history of trauma strongly suggest non-accidental… 
Review
1991
Review
1991
Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I.
Glutaric aciduria type I is an uncommon inborn error of metabolism. It is a serious disease, often with a fatal outcome. This… 
Highly Cited
1990
Highly Cited
1990
Glutaric Acidemia Type II: Heterogeneity of Clinical and Biochemical Phenotypes
ABSTRACT: We have examined 23 fibroblast lines from patients with neonatal and late onset glutaric acidemia type II and… 
Highly Cited
1987
Highly Cited
1987
Glutaric aciduria type I
We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA… 
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