BH4-deficient hyperphenylalaninemia B

Term ID

DOID:0112225

Synonyms

• 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

• OMIM:233910
• ORDO:2102

Ontology

Human Disease   ( DOID:0112225 )