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ENHyperphenylalaninemia, Bh4-Deficient, a (HPABH4A)
Alias:
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency
Pts Deficiency
Hpabh4a
Bh4-Deficient Hyperphenylalaninemia a
Ptsd
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pts Deficiency
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due to Pts Deficiency
6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency
Hyperphenylalaninemia, Bh4-Deficient, Type a
Ptpsd
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Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to tetrahydrobiopterin deficiency and depressive disorder, and has symptoms including ataxia, muscle rigidity and seizures. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Diazepam and Doxazosin have been mentioned in the context of this disorder. Affiliated tissues include brain and prefrontal cortex, and related phenotypes are hypotonia and opisthotonus
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