FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term BH4-deficient hyperphenylalaninemia C ID (Ontology) DOID:0081130 (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 and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15.
Also Known As "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency"
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 Genes
 BH4-deficient hyperphenylalaninemia C       1
 for disease ribbon | BH4-deficient hyperphenylalaninemia C       1
 model of | BH4-deficient hyperphenylalaninemia C       1
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autosomal genetic disease
 |__autosomal recessive disease________________________________
amino acid metabolic disorder                                  |
 |__tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia__|
                                                               BH4-deficient hyperphenylalaninemia C  1 rec.
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Is a autosomal recessive disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
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Synonyms
  • "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT
Secondary IDs
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MIM:261630