tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

Term ID

DOID:0081132

Synonyms

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. (2)

References

• GARD:7751
• ORDO:238583

Ontology

Human Disease   ( DOID:0081132 )