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Summary Literature (0)
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)