DOID:0090106 - Bh4-deficient hyperphenylalaninemia A
Disease Ontology Definition:An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material_basis_in mutation in the PTS gene on chromosome 11q23.1.
Synonyms: 6-pyruvoyl-tetrahydropterin synthase deficiency, HPABH4A, PTS deficiency, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency,
Echinobase Genes : pts
|OMIM:261640 - hyperphenylalaninemia, bh4-deficient, a; hpabh4a|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)