Disease

Aromatic amino acid decarboxylase deficiency1, 2, 3

Gene

DDC

Inheritance AR
Current Treatments Pyridoxine/pyridoxal phosphate, folinic acid, dopamine agonists, MAO B inhibitors. Gene therapy PTC-AADC
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test urine organic acid analysis, plasma AADC activity5
Disease Frequency (per 100,000) 0.836
Genes Included in Disease Frequency DDC
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Aromatic+Amino+Acid+Decarboxylase+Deficiency&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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