CO-EXISTENCE OF PHENYLKETONURIA AND FABRY DISEASE ON A 3-YEAR-OLD BOY: CASE REPORT
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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Amaltea Medical Publishing House
2010-06-01
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| Series: | Romanian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://revistemedicale.amaltea.ro/Romanian_Journal_of_PEDIATRICS/Revista_Romana_de_PEDIATRIE-2010-Nr.2/RJP_2010_2_Art-11.pdf |