| Metadata | |
|---|---|
| ID | DOID:0112225 |
| Name | BH4-deficient hyperphenylalaninemia B |
| Definition | A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. https://pubmed.ncbi.nlm.nih.gov/7869202/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
GTP cyclohydrolase 1 deficiency [EXACT] HPABH4B [EXACT] tetrahydrobiopterin-deficient hyperphenylalaninemia B [EXACT] |
| Parent Relationships |
is_a tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |