Human genes for BH4-deficient hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia A [DOID:0090106]
An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
Synonyms: BH4-deficient hyperphenylalaninemia A, BH4deficient hyperphenylalaninemia A, DOID:0090106, 6-pyruvoyl-tetrahydropterin synthase deficiency, HPABH4A ...