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Human Disease
BH4-deficient hyperphenylalaninemia B
- Term ID
- DOID:0112225
- Synonyms
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- GTP cyclohydrolase 1 deficiency
- HPABH4B
- tetrahydrobiopterin-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/
- References
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- MIM:233910
- ORDO:2102
- Ontology
- Human Disease ( DOID:0112225 )
- is a type of
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