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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 226 | |
Name: | Classical phenylketonuria | |
Associated with: | 1 target |
Synonyms |
Phenylketonuria |
Database Links |
Disease Ontology:
DOID:9281 OMIM: 261600 Orphanet: ORPHA79254 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖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 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Classical phenylketonuria