Disease

6-pyruvoyl-tetrahydropterin Synthase Deficiency

About the Disease
Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to segawa syndrome, autosomal recessive and personality 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 Paroxetine have been mentioned in the context of this disorder. Affiliated tissues include brain, prefrontal cortex and amygdala, and related phenotypes are opisthotonus and hypotonia

Common Targets
PTS | QDPR

疾病靶点研报
6-pyruvoyl-tetrahydropterin Synthase Deficiency

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