Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency
Joint Authors
Stanescu, Sinziana
Belanger-Quintana, Amaya
Alcalde Martin, Carlos
Pérez-Cerdá Silvestre, Celia
Merinero Cortés, Begoña
Gonzalez Pérez, Belen
Fernández García-Abril, Carmen
Arrieta Blanco, Francisco
Palacios Valverde, Esperanza
Martínez-Pardo Casanova, Mercedes
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-15
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Background.
Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase.
The clinical picture ranges from a severe neonatal lethal presentation to late myopathic forms responsive to riboflavin.
Up to now, there is no effective treatment for the neonatal form, which exhibits severe metabolic acidosis, hyperammonemia, hypoketotic hypoglycemia, and rhabdomyolysis.
We present the case of a child who has had a good long-term outcome after a typical neonatal onset, with a dramatic drop in ammonia levels during the initial metabolic decompensation crisis and adequate control even during intercurrent diseases thereafter with N-carbamylglutamate treatment.
American Psychological Association (APA)
Stanescu, Sinziana& Belanger-Quintana, Amaya& Alcalde Martin, Carlos& Pérez-Cerdá Silvestre, Celia& Merinero Cortés, Begoña& Gonzalez Pérez, Belen…[et al.]. 2020. Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150582
Modern Language Association (MLA)
Stanescu, Sinziana…[et al.]. Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case Reports in Pediatrics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1150582
American Medical Association (AMA)
Stanescu, Sinziana& Belanger-Quintana, Amaya& Alcalde Martin, Carlos& Pérez-Cerdá Silvestre, Celia& Merinero Cortés, Begoña& Gonzalez Pérez, Belen…[et al.]. Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150582
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150582