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.
MONDO:0016543
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
is_a
6-pyruvoyl tetrahydropterin synthase deficiency
exact
6-pyruvoyl-tetrahydropterin synthase deficiency
exact
BH4-deficient hyperphenylalaninemia A
exact
Bh4-deficient hyperphenylalaninemia type A
exact
HPABH4A
exact
PTS deficiency
exact
PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included
related
hyperphenylalanemia, BH4-deficient, A
related
hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
related
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
exact
hyperphenylalaninemia, BH4-deficient A
exact
hyperphenylalaninemia, BH4-deficient, A
related
hyperphenylalaninemia, BH4-deficient, type A
related
hyperphenylalaninemia, Bh4-deficient, type a
exact
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency
related