CO-EXISTENCE OF PHENYLKETONURIA AND FABRY DISEASE ON A 3-YEAR-OLD BOY: CASE REPORT

• Main Authors: Daniela Concolino (Author), Maria Rapsomaniki (Author), Eliana Disabella (Author), Simona Sestito (Author), Maria G Pascale (Author), Maria T Moricca (Author), Giuseppe Bonapace (Author), Elisea Arbustini (Author), Pietro Strisciuglio (Author)
• Format: Book
• Published: Amaltea Medical Publishing House, 2010-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: 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 defi ciency. Fabry disease (FD) is an X-linked lysosomal storage disorder d...