Results 161 to 170 of about 3,887 (227)

Glutaric aciduria type I: Unusual biochemical presentation

The Journal of Pediatrics, 1992
We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of ...
Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS   +4 more
openaire   +3 more sources

Acute Flaccid Paralysis in Infancy: A Rare Presentation of Glutaric Aciduria Type I

International journal of medical science and health research
Glutaric aciduria type I (GA1) is a rare autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, disturbing lysine, hydroxylysine, and tryptophan metabolism [1].
Amal Prazad, Aswathy Mathews
semanticscholar   +1 more source

Glutaric aciduria type I

Neuroradiology, 1991
Serial CT findings in an infant with glutaric aciduria type I (GA-I) are reported. The major CT features were dilatation of the insular cisterns, regression of the temporal lobes, with "bat wings" dilatation of the Sylvian fissures and hypodensity of the lenticular nuclei. CT changes preceded the onset of symptoms by 3 months.
H, Mandel, J, Braun, O, el-Peleg, E, Christensen, M, Berant   +4 more
openaire   +2 more sources

Clinical Spectrum, Neuroimaging, Dietary Management, and Outcomes in Glutaric Aciduria Type I: A Case Series from a Tertiary Metabolic Centre in India

Journal of Multidisciplinary Research in Healthcare
Background: Glutaric aciduria type I (GA1) is a rare autosomal recessive neurometabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase, leading to the accumulation of glutaric acid, 3-hydroxyglutaric acid, and glutarylcarnitine.
Garvita Kharbanda, Sirimavo Nair, Priyanshu Mathur   +2 more
semanticscholar   +1 more source

Subdural Hematomas and Glutaric Aciduria Type I

Pediatrics, 2001
To the Editor. I have read with great interest the recent paper of Morris and co-workers on the evaluation of infants with subdural hematoma and suspected child abuse.1 Under these circumstances one important differential diagnosis may be missed without the appropriate diagnostic tests.
O. Bodamer;, M. W. Morris, S. Smith
openaire   +2 more sources

Oxidative damage in glutaric aciduria type I patients and the protective effects of l‐carnitine treatment

Journal of Cellular Biochemistry, 2018
The deficiency of the enzyme glutaryl‐CoA dehydrogenase, known as glutaric acidemia type I (GA‐I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects.
Gilian Guerreiro, J. Faverzani, C. Jacques, D. Marchetti, A. Sitta, Daniella de Moura Coelho, A. Kayser, F. Kok, Larissa Athayde, V. Manfredini, M. Wajner, C. Vargas   +11 more
semanticscholar   +1 more source

L‐Carnitine treatment in glutaric aciduria type I

Neurology, 1986
Patients with organic aciduria may have a higher than normal requirement for L-carnitine. In a patient with type I glutaric aciduria, serum total L-carnitine levels were 8.5 microM (normal, 54.4 +/- 14.2 [2 SD] microM). After treatment with L-carnitine for 1 month, serum levels of both free and total L-carnitine were normal with an acyl-to-total ratio ...
D W, Seccombe, L, James, F, Booth
openaire   +2 more sources

Diagnosis and management of glutaric aciduria type I

Journal of Inherited Metabolic Disease, 1998
AbstractGlutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic‐dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity.
Baric, I., Zschocke, J., Christensen, E., Duran, M., Goodman, S.I., Leonard, J.V., Müller, E., Morton, D.H., Superti-Furga, A., Hoffmann, G.   +9 more
openaire   +3 more sources

Glutaric aciduria types I and II

Brain and Development, 2006
Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is discussed, especially those resulting from lesions in the basal ganglia, and the encephalopathic episodes ...
openaire   +2 more sources

Macrocephaly, Subarachnoid Fluid Collection, and Glutaric Aciduria Type I

Journal of Child Neurology, 1996
I.F.: 1.333 ISI: CLINICAL NEUROLOGY ...
DRIGO, PAOLA, PIOVAN S, BATTISTELLA, PIER ANTONIO, DELLA PUPPA A, BURLINA A.   +4 more
openaire   +4 more sources