| Metadata | |
|---|---|
| ID | DOID:0081131 |
| Name | BH4-deficient hyperphenylalaninemia D |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency [EXACT] |
| Parent Relationships |
is_a tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |