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Human Disease

BH4-deficient hyperphenylalaninemia C

Term ID
DOID:0081130
Synonyms
  • tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase 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 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. https://pubmed.ncbi.nlm.nih.gov/11388593/
References
Ontology
Human Disease   ( DOID:0081130 )
Relationships
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Genes Involved
Zebrafish Models