| Metadata | |
|---|---|
| ID | DOID:0090106 |
| Name | BH4-deficient hyperphenylalaninemia A |
| 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. https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency, https://www.omim.org/entry/261640 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237914002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
6-pyruvoyl-tetrahydropterin synthase deficiency [EXACT] HPABH4A [EXACT] hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency [EXACT] PTS deficiency [EXACT] tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [EXACT] |
| Parent Relationships |
is_a tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |