Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review
Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low brain protein synthesis, hypomyelination are the...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2020-01-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/788 |