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BH4-deficient hyperphenylalaninemia B (DOID:0112225)
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Synonyms: GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahydrobiopterin-deficient hyperphenylalaninemia B
Alt IDs: OMIM:233910, ORDO:2102
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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