Disease

Hyperphenylalaninemia due to dihydropteridine reductase deficiency1, 2

Gene

QDPR

Inheritance AR
Current Treatments Tetrahydrobiopterin, levodopa combined with a decarboxylase inhibitor, 5-hydroxytryptophan, low Phe diet
Evidence for Treatment guideline3
Non-Molecular Testing Availability yes
Non-Molecular Test CSF neurotransmitter metabolites and pterins, plasma amino acids2
Disease Frequency (per 100,000) 0.314
Genes Included in Disease Frequency QDPR
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Hyperphenylalaninemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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