Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed pati...

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Bibliographic Details
Main Authors: Steven F. Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley
Format: Article
Language:English
Published: MDPI AG 2017-11-01
Series:Pediatric Reports
Subjects:
Online Access:http://www.pagepress.org/journals/index.php/pr/article/view/7045