Search Ontology:
Human Disease

BH4-deficient hyperphenylalaninemia A

Term ID
DOID:0090106
Synonyms
  • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • HPABH4A
  • hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
  • PTS deficiency
  • tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
Definition
A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (2)
References
Ontology
Human Disease   ( DOID:0090106 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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