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

• OMIM:261630

Ontology

Human Disease   ( DOID:0081130 )