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

• GARD:5682
• MESH:C535325
• NCI:C138171
• OMIM:261640
• ORDO:13
• SNOMEDCT_US_2023_03_01:237914002
• UMLS_CUI:C0878676

Ontology

Human Disease   ( DOID:0090106 )