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Up to: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
BH4-deficient hyperphenylalaninemia A
An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
This condition has no sub-types.