Search Results

Searched for hyperphenylalaninemia.

1. tetrahydrobiopterin deficiency condition summary
   Found in name or synonym: Hyperphenylalaninemia caused by a defect in biopterin...

   Related genes:

   • GCH1
   • PCBD1
   • PTS
   • QDPR
2. PAH gene summary
   Official name: phenylalanine hydroxylase

   Found: ...such as variant PKU or non-PKU hyperphenylalaninemia....
3. phenylketonuria condition summary
   Found: ...such as variant PKU or non-PKU hyperphenylalaninemia. Changes in other genes may...

   Related genes:

   • PAH
4. GCH1 gene summary
   Official name: GTP cyclohydrolase 1

   Related term: hyperphenylalaninemia
5. PCBD1 gene summary
   Official name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

   Related term: hyperphenylalaninemia
6. PTS gene summary
   Official name: 6-pyruvoyltetrahydropterin synthase

   Related term: hyperphenylalaninemia
7. QDPR gene summary
   Official name: quinoid dihydropteridine reductase

   Related term: hyperphenylalaninemia