Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.

Autor: Stanescu S; Unidad de Enfermedades Metabólicas, Hospital Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain., Belanger-Quintana A; Unidad de Enfermedades Metabólicas, Hospital Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain., Alcalde Martin C; Servicio de Pediatria, Hospital Universitario Rio Hortega, C/Dulzaina 2, PC 47012, Valladolid, Spain., Pérez-Cerdá Silvestre C; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, C/ Francisco Tomás y Valiente 7, PC 28049, Madrid, Spain., Merinero Cortés B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, C/ Francisco Tomás y Valiente 7, PC 28049, Madrid, Spain., Gonzalez Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, C/ Francisco Tomás y Valiente 7, PC 28049, Madrid, Spain., Fernández García-Abril C; Unidad de Cuidados Intensivos Pediátricos y Neonatales, Hospital Clínico Universitario, Av. Ramón y Cajal 3, PC 47003, Valladolid, Spain., Arrieta Blanco F; Unidad de Enfermedades Metabólicas, Hospital Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain., Palacios Valverde E; Unidad de Enfermedades Metabólicas, Hospital Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain., Martínez-Pardo Casanova M; Unidad de Enfermedades Metabólicas, Hospital Ramón y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain.
Jazyk: angličtina
Zdroj: Case reports in pediatrics [Case Rep Pediatr] 2020 Jul 14; Vol. 2020, pp. 1370293. Date of Electronic Publication: 2020 Jul 14 (Print Publication: 2020).
DOI: 10.1155/2020/1370293
Abstrakt: 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.
Competing Interests: The authors declare no conflicts of interest.
(Copyright © 2020 Sinziana Stanescu et al.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje