General Information:

Id: 5,501
Diseases: Metabolic
Homo sapiens
review
Reference: Opladen T et al.(2012) An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia J. Inherit. Metab. Dis. 35: 963-973 [PMID: 22729819]

Interaction Information:

Comment Autosomal recessive GTP cyclohydrolase I (GTPCH), and 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiencies are disorders in Tetrahydrobiopterin (BH4) biosynthesis leading to hyperphenylalaninemia (HPA). Tetrahydrobiopterin (BH4) is involved in the biosynthesis of the neurotransmitters dopamine and serotonin.
Formal Description
Interaction-ID: 53422

gene/protein

PTS

increases_quantity of

drug/chemical compound

Tetrahydrobiopterin

Drugbank entries Show/Hide entries for PTS or Tetrahydrobiopterin
Comment Autosomal recessive GTP cyclohydrolase I (GTPCH, GCH1), and 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiencies are disorders in Tetrahydrobiopterin (BH4) biosynthesis leading to hyperphenylalaninemia (HPA). Tetrahydrobiopterin (BH4) is involved in the biosynthesis of the neurotransmitters dopamine and serotonin.
Formal Description
Interaction-ID: 53423

gene/protein

GCH1

increases_quantity of

drug/chemical compound

Tetrahydrobiopterin

Drugbank entries Show/Hide entries for GCH1 or Tetrahydrobiopterin
Comment Tetrahydrobiopterin (BH4) deficiency leads to dopamine and serotonin depletion in the CNS.
Formal Description
Interaction-ID: 53424

drug/chemical compound

Tetrahydrobiopterin

increases_quantity of

drug/chemical compound

Dopamine

Drugbank entries Show/Hide entries for Tetrahydrobiopterin or Dopamine
Comment Tetrahydrobiopterin (BH4) deficiency leads to dopamine and serotonin depletion in the CNS (central nervous system).
Formal Description
Interaction-ID: 53425

drug/chemical compound

Tetrahydrobiopterin

increases_quantity of

drug/chemical compound

Serotonin

Drugbank entries Show/Hide entries for Tetrahydrobiopterin
Comment Dihydropteridine reductase (DHPR, QDPR) deficiency and pterin-4a-carbinolamine dehydratase (PCD, PCBD1) deficiency show defects in tetrahydrobiopterin (BH4) regeneration. These deficiencies present with HPA (hyperphenylalaninemia).
Formal Description
Interaction-ID: 53426

gene/protein

QDPR

increases_quantity of

drug/chemical compound

Tetrahydrobiopterin

Drugbank entries Show/Hide entries for QDPR or Tetrahydrobiopterin
Comment Dihydropteridine reductase (DHPR, QDPR) deficiency and pterin-4a-carbinolamine dehydratase (PCD, PCBD1) deficiency show defects in tetrahydrobiopterin (BH4) regeneration. These deficiencies present with HPA (hyperphenylalaninemia).
Formal Description
Interaction-ID: 53427

gene/protein

PCBD1

increases_quantity of

drug/chemical compound

Tetrahydrobiopterin

Drugbank entries Show/Hide entries for PCBD1 or Tetrahydrobiopterin
Comment Autosomal recessive GTP cyclohydrolase I (GTPCH), and 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiencies are disorders in Tetrahydrobiopterin (BH4) biosynthesis leading to hyperphenylalaninemia (HPA). Tetrahydrobiopterin (BH4) is involved in the biosynthesis of the neurotransmitters dopamine and serotonin.
Formal Description
Interaction-ID: 58766

gene/protein

PTS

affects_activity of

disease

Hyperphenylalaninemia, BH4-deficient, A

Drugbank entries Show/Hide entries for PTS
Comment Autosomal recessive GTP cyclohydrolase I (GTPCH), and 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiencies are disorders in Tetrahydrobiopterin (BH4) biosynthesis leading to hyperphenylalaninemia (HPA). Tetrahydrobiopterin (BH4) is involved in the biosynthesis of the neurotransmitters dopamine and serotonin.
Formal Description
Interaction-ID: 58770

gene/protein

GCH1

affects_activity of

disease

Hyperphenylalaninemia, BH4-deficient, B

Drugbank entries Show/Hide entries for GCH1
Comment Dihydropteridine reductase (DHPR, QDPR) deficiency and pterin-4a-carbinolamine dehydratase (PCD, PCBD1) deficiency show defects in tetrahydrobiopterin (BH4) regeneration. These deficiencies present with HPA (hyperphenylalaninemia).
Formal Description
Interaction-ID: 58771

gene/protein

QDPR

affects_activity of

disease

Hyperphenylalaninemia, BH4-deficient, C

Drugbank entries Show/Hide entries for QDPR
Comment Dihydropteridine reductase (DHPR, QDPR) deficiency and pterin-4a-carbinolamine dehydratase (PCD, PCBD1) deficiency show defects in tetrahydrobiopterin (BH4) regeneration. These deficiencies present with HPA (hyperphenylalaninemia).
Formal Description
Interaction-ID: 58777

gene/protein

PCBD1

affects_activity of

disease

Hyperphenylalaninemia, BH4-deficient, D

Drugbank entries Show/Hide entries for PCBD1