FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term BH4-deficient hyperphenylalaninemia A ID (Ontology) DOID:0090106 (Human Disease)
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.
Also Known As "6-pyruvoyl-tetrahydropterin synthase deficiency" ; "HPABH4A" ; "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" (for all, see Synonyms field below)
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 Genes
 BH4-deficient hyperphenylalaninemia A       1
 for disease ribbon | BH4-deficient hyperphenylalaninemia A       1
 model of | BH4-deficient hyperphenylalaninemia A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________________________
amino acid metabolic disorder                                  |
 |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia__|
                                                               BH4-deficient hyperphenylalaninemia A  1 rec.
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Is a autosomal recessive disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
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Synonyms
  • "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT
    "HPABH4A" EXACT OMO:0003012
    "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT
    "PTS deficiency" EXACT
    "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT
Secondary IDs
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GARD:5682
MESH:C535325
MIM:261640
NCI:C138171
ORDO:13
SNOMEDCT_US_2023_03_01:237914002
UMLS_CUI:C0878676