# BH4-deficient hyperphenylalaninemia A

> human disease

**Wikidata**: [Q4641554](https://www.wikidata.org/wiki/Q4641554)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency)  
**Source**: https://4ort.xyz/entity/bh4-deficient-hyperphenylalaninemia-a


## References

1. Disease Ontology
2. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000150787/Orphanet_13)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)