6-pyruvoyl-tetrahydropterin synthase deficiency
From BugSigDB
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.
- Aliases
- 6-pyruvoyl tetrahydropterin synthase deficiency
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- BH4-deficient hyperphenylalaninemia A
- Bh4-deficient hyperphenylalaninemia type A
- HPABH4A
- hyperphenylalanemia, BH4-deficient, A
- hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
- hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
- hyperphenylalaninemia, BH4-deficient A
- hyperphenylalaninemia, BH4-deficient, A
- hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency
- hyperphenylalaninemia, BH4-deficient, type A
- hyperphenylalaninemia, Bh4-deficient, type a
- hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency
- PTS deficiency
- PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included
- tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency
