| Metadata | |
|---|---|
| ID | DOID:0081130 |
| Name | BH4-deficient hyperphenylalaninemia C |
| 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/ |
| Xrefs | |
| Synonyms |
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency [EXACT] |
| Parent Relationships |
is_a tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |