OBO ID: DOID:0081130
Term Name: BH4-deficient hyperphenylalaninemia C Search Ontology:
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 )
OTHER BH4-deficient hyperphenylalaninemia C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
QDPR Hyperphenylalaninemia, BH4-deficient, C 261630
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None