tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
MONDO:0850519Mondo
Findings
No curated finding names tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has material basis in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4.
Definition from the Mondo Disease Ontology (MONDO:0850519), read 2026-09-29. CC BY 4.0.