Version: 8.0.0
Date: Tue Jan 28 2025
BH4-deficient hyperphenylalaninemia C
DOID:0081130
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

BH4-deficient hyperphenylalaninemia C

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.
Synonyms
  • tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency
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