Last update 21 Mar 2024

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Basic Info

Synonyms
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY, 6-Pyruvoyl tetrahydropterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
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Introduction
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.

Analysis

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