BH4-deficient hyperphenylalaninemia D

Term ID

DOID:0081131

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

• GARD:2843
• MIM:264070
• ORDO:1578

Ontology

Human Disease   ( DOID:0081131 )