Case Report
Volume 12 Issue 3 - 2020
Type 1 Glutaric Aciduria: About a Case of Insidious Presentation Interpreted as a Childhood Cerebral Palsy
Neurólogo Pediatra, Hospital General del Norte de Guayaquil, IESS Ceibos, Guayaquil, Ecuador
*Corresponding Author:Cruz Daniel, Neurólogo Pediatra, Hospital General del Norte de Guayaquil, IESS Ceibos, Guayaquil, Ecuador.
Received: January 27, 2020; Published:February 17, 2020
Abstract
The first reported national case of glutaric aciduria type I is presented. This pathology is part of the congenital errors of metabolism; It is produced by deficiency of the enzyme glutaryl coenzyme A dehydrogenase involved in the catabolism of L-lysine, L-hydroxylysine and L-tryptophan, which causes the storage of glutaric and 3 hydroxyglutaric acids in the central nervous system. A clinical case with late diagnosis is described and corresponding to a form of insidious presentation of the disease. The clinical, imaging and metabolic integration allowed to establish a diagnosis of type I glutaric aciduria.
Keywords: Inborn Errors of Amino Acid Metabolism; Glutaric Aciduria Type I; Dystonic Tetraparesis
References
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Citation: Linares María Andrea and Cruz Daniel. “Type 1 Glutaric Aciduria: About a Case of Insidious Presentation Interpreted as a Childhood Cerebral Palsy”. EC Neurology 12.3 (2020): 01-05.
Copyright: © 2020 Linares María Andrea and Cruz Daniel. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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