MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

• Main Authors: Ralph Fingerhut (Author), Pascal Joset (Author), Niels J. Rupp (Author), Martin Girsberger (Author), Susanna H.M. Sluka (Author), Theresia Herget (Author), Silvia Miranda Azzarello-Burri (Author), Anita Rauch (Author), Matthias Baumgartner (Author)
• Format: Book
• Published: MDPI AG, 2017-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS i...