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Classical phenylketonuria

Disease ID:226
Name:Classical phenylketonuria
Associated with:1 target
Database Links
Disease Ontology: DOID:9281
OMIM: 261600
Orphanet: ORPHA79254


L-Phenylalanine hydroxylase
Role:  Genetic deficiency of phenylalanine hydroxylase leads to elevated plasma Phe levels (hyperphenylalaninaemia), reduced brain levels of monoamine neurotransmitters, and ultimately causes neurocognitive dysfunction.
Drugs:  Sapropterin
Comments:  In May 2018, the US FDA approved a novel enzyme therapy for adult PKU patients for whom current methods of controlling Phe levels are inadequate. Palynziq® (pegvaliase-pqpz) is a recombinant and pegylated form of phenylalanine ammonia lyase, an enzyme derived from the filamentous cyanobacterium Anabaena variabilis. Administration of pegvaliase in humans reduces plasma Phe levels by converting it to trans-cinnamic acid and trace amounts of ammonia. In the EU, pegvaliase can be used under orphan drug designation (May 2018).
References:  1


No ligand related data available for Classical phenylketonuria


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1. Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J et al.. (2018) Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab, 124 (1): 27-38. [PMID:29653686]