Phenylketonuria and Hirschsprung Disease-A Report of an Unusual Neonatal Presentation

• Main Authors: Nina Lenherr (Author), Viktoria A. Pfeifle (Author), Stefan Holland-Cunz (Author), Susanna H. M. Sluka (Author), Beat Thöny (Author), Gabor Szinnai (Author), Martina Huemer (Author), Marianne Rohrbach (Author), Ralph Fingerhut (Author)
• Format: Book
• Published: MDPI AG, 2017-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium unt...