OBO ID: DOID:0081131
Term Name: BH4-deficient hyperphenylalaninemia D Search Ontology:
Synonyms:
  • tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
Definition: A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/24204001/
References:
Ontology: Human Disease   ( DOID:0081131 )
Relationships
is a type of:
OTHER BH4-deficient hyperphenylalaninemia D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCBD1 Hyperphenylalaninemia, BH4-deficient, D 264070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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