Results 171 to 180 of about 3,887 (227)

[Glutaric aciduria type I].

Anales espanoles de pediatria, 1993
We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by using the CG/EM method. In the third patient, however, these levels were only slightly increased and the diagnosis was attained by the determination of total glutaric acid and glutaryl-carnitine.
J M, Prats Viñas, M A, Ribes Rubio, M P, Briones Godino, C, Garaizar Axpe, P, Sanjurjo Crespo   +4 more
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Glutaric Aciduria Type I

2016
Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas ...
openaire   +1 more source

Glutaric Aciduria Type I

2017
Glutaric Aciduria type I is a recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase. This enzyme is responsible for catabolism of L-lysine, L-hydroxylysine, and L-tryptophan. Deficiency of this enzyme leads to abnormal accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine ...
openaire   +1 more source

Glutaric aciduria type I: ultrasonographic demonstration of early signs

Pediatric Radiology, 1999
Glutaric aciduria type I (GA-I) is a rare inherited metabolic disease with increased excretion of glutaric acid and its metabolites. Diagnosis is often delayed until the onset of irreversible neurological deficits.We reviewed the clinical and imaging (US, CT and MRI) findings in six patients with proven GA-I and with emphasis on the early US findings ...
Forstner, R, Hoffmann, GF, Gassner, I, Heideman, P, Klerk, Hans, Lawrenz-Wolf, B, Doringer, E, Weiss-Wichert, P, Tröger, J, Colombo, JP, Plöchl, E   +10 more
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Significance of bound glutarate in the diagnosis of glutaric aciduria type I

Journal of Inherited Metabolic Disease, 1992
Glutaric aciduria type I (GA-I) (McKusick 231670) is an autosomal recessive disorder caused by glutaryl-CoA dehydro genase (GD) deficiency. The diagnosis of GA-I is determined by organic acid analysis of urine and is confirmed by measuring the enzyme activity in cultured skin fibroblasts or leukocytes.
Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS   +5 more
openaire   +3 more sources

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

Journal of Cellular Biochemistry, 2018
Glutaric acidemia type I (GA‐1) is an inborn error of metabolism due to deficiency of glutaryl‐CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl‐CoA to crotonyl‐CoA. GA‐1 occurs in about 1 in 100 000 infants worldwide. The GCDH gene is
A. A. Shadmehri, Najmeh. Fattahi, M. Pourreza, Mahboobeh Koohiyan, S. Zarifi, M. Darbouy, Reza Sharifi, J. Tavakkoly Bazzaz, Mohammad Amin Tabatabaiefar   +8 more
semanticscholar   +1 more source

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement

Gene Therapy, 2023
Segur-Bailach, García-Villoria, del Rey, Guitart-Mampel, Cristina Fillat   +4 more
semanticscholar   +1 more source

Case Report: Rhabdomyolysis in Glutaric Aciduria Type I

Journal of Inherited Metabolic Disease, 2003
AbstractRecurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I. We report rhabdomyolysis in a second, unrelated patient, suggesting that there may be a specific association with this metabolic disorder.
S. L. Chow, C. Rohan, A. A. M. Morris
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Rhabdomyolysis in glutaric aciduria type I.

Journal of inherited metabolic disease, 2004
Recurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I. We report rhabdomyolysis in a second, unrelated patient, suggesting that there may be a specific association with thismetabolic disorder.
S L, Chow, C, Rohan, A A M, Morris
openaire   +1 more source

Atypical and Variable Clinical Presentation of Glutaric Aciduria Type I

Neuropediatrics, 2000
We report atypical and variable clinical presentation of glutaric aciduria type I (GA I) in four children from two Greek families. In one family, a boy with typical biochemical and neuroradiological features of GA I suffered a metabolic crisis at 16 months of age resulting in a severe movement disorder. His sister, two years older and showing identical
D I, Zafeiriou, J, Zschocke, P, Augoustidou-Savvopoulou, I, Mauromatis, A, Sewell, E, Kontopoulos, G, Katzos, G F, Hoffmann   +7 more
openaire   +2 more sources