Disease

Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency1, 2

Gene

PTS

Inheritance AR
Current Treatments Tetrahydrobiopterin, levodopa combined with a decarboxylase inhibitor, 5-hydroxytryptophan
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test CSF neurotransmitter metabolites and pterins, plasma amino acids4
Disease Frequency (per 100,000) 0.315
Genes Included in Disease Frequency PTS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=tetrahydrobiopterin&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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