{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:36:17Z","timestamp":1747190177206,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T00:00:00Z","timestamp":1594771200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Recordati Rare Diseases"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2020,7,15]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. 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.<\/jats:p>","DOI":"10.1155\/2020\/1370293","type":"journal-article","created":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T23:30:48Z","timestamp":1594855848000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0340-4580","authenticated-orcid":true,"given":"Sinziana","family":"Stanescu","sequence":"first","affiliation":[{"name":"Unidad de Enfermedades Metab\u00f3licas, Hospital Ram\u00f3n y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaya","family":"Belanger-Quintana","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Metab\u00f3licas, Hospital Ram\u00f3n y Cajal, IRYCIS, Crta de Colmenar Viejo, Km 9,100, PC 28034, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Alcalde Martin","sequence":"additional","affiliation":[{"name":"Servicio de Pediatria, Hospital Universitario Rio Hortega, C\/Dulzaina 2, PC 47012, Valladolid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"P\u00e9rez-Cerd\u00e1 Silvestre","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares, Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, C\/ Francisco Tom\u00e1s y Valiente 7, PC 28049, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bego\u00f1a","family":"Merinero Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares, Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, C\/ Francisco Tom\u00e1s y Valiente 7, PC 28049, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belen","family":"Gonzalez P\u00e9rez","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares, Centro de Biolog\u00eda Molecular, Universidad Aut\u00f3noma de Madrid, CIBERER, IdiPAZ, C\/ Francisco Tom\u00e1s y Valiente 7, PC 28049, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Fern\u00e1ndez Garc\u00eda-Abril","sequence":"additional","affiliation":[{"name":"Unidad de Cuidados Intensivos Pedi\u00e1tricos y Neonatales, Hospital Cl\u00ednico Universitario, Av. 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