Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

• Auteurs principaux: Steven F. Dobrowolski (Auteur), Lina Ghaloul-Gonzalez (Auteur), Jerry Vockley (Auteur)
• Format: Livre
• Publié: MDPI AG, 2017-11-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...