Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

• Main Authors: Bonapace Giuseppe (Author), Moricca Maria T (Author), Pascale Maria G (Author), Sestito Simona (Author), Disabella Eliana (Author), Rapsomaniki Maria (Author), Concolino Daniela (Author), Arbustini Elisea (Author), Strisciuglio Pietro (Author)
• Format: Book
• Published: BMC, 2010-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry di...