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Summary Literature (0)
DOID:0090106 - BH4-deficient hyperphenylalaninemia A

Disease Ontology 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.

Synonyms: 6-pyruvoyl-tetrahydropterin synthase deficiency, HPABH4A, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, PTS deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency

Xenbase Genes : pts

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009863 - BH4-deficient hyperphenylalaninemia A

MIM:
MIM:261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (is_a)