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
- Cerisola A., et al. “Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I”. Pediatric Neurology 40.6 (2009): 426-431.
- Forero Sánchez., et al. “Acidemia glutárica tipo 1: presentación de un caso y revisión de la literature”. Iatreia 28.2 (2015): 193-197.
- Barreiro A., et al. “Aciduria glutárica tipo I. Descripción del primer caso clínico nacional”. Revista Médica del Uruguay 20.3 (2004): 221-227.
- Goodman SI., et al. “Glutaric aciduria: a new inborn error of amino acid metabolism”. Biochemia Medica 12 (1975): 12-21.
- McClelland VM., et al. “Glutaric aciduria type 1 presenting with epilepsy”. Developmental Medicine and Child Neurology 51.3 (2009): 235-239.
- Hedlund GL., et al. “Glutaric acidemia type 1”. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 142C.2 (2006): 86-94.
- Brismar J and Ozand PT. “CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients”. American Journal of Neuroradiology 16.4 (1995): 675-683.
- Ortiz A., et al. “Glutaric aciduria type 1”. Acta Neurológica Colombiana 28 (2011): 157-165.
- Sarangi PK., et al. “Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy”. Journal of Pediatric Neurosciences 12.1 (2017): 85-86.
- Heringer J., et al. “Use of guidelines improves the neurological outcome in glutaric aciduria type I”. Annals of Neurology 68.5 (2010): 743-752.
- Boy N., et al. “Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision”. Journal of Inherited Metabolic Disease 40.1 (2017): 75-101.
- Wang Q and Yang YL. “[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1]”. Zhongguo Dang Dai Er Ke Za Zhi 18.5 (2016): 460-465.
- Tsai FC., et al. “Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes”. Journal of the Chinese Medical Association 80.4 (2017): 253-261.
- Lindner M., et al. “Neonatal screening for glutaryl-CoA dehydrogenase deficiency”. Journal of Inherited Metabolic Disease 27 (2004): 851-859.
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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