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

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

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...

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Bibliographic Details
Main Authors: Nina Lenherr, Viktoria A. Pfeifle, Stefan Holland-Cunz, Susanna H. M. Sluka, Beat Thöny, Gabor Szinnai, Martina Huemer, Marianne Rohrbach, Ralph Fingerhut
Format: Article
Language:English
Published: MDPI AG 2017-08-01
Series:International Journal of Neonatal Screening
Subjects:
Phenylketonuria
maple syrup urine disease
Hirschsprung disease
intestinal motility disorder
Online Access:https://www.mdpi.com/2409-515X/3/3/24

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https://www.mdpi.com/2409-515X/3/3/24

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