Kylie O’Keefe, Senior Vice President, Head of Global Commercial and Corporate Strategy at PTC Therapeutics, describes early signs and symptoms of aromatic L-amino acid decarboxylase (AADC) deficiency.

AADC deficiency is a rare, genetic disorder due to a defect in the dopa decarboxylase (DDC) gene that reduces the synthesis of dopamine, norepinephrine, epinephrine, and melatonin.

As Ms. O’Keefe explains, two common signs of AADC deficiency are oculogyric crises, which is prolonged involuntary upward deviation of the eyes, and hypotonia. General developmental delays may also inspire a physician to test for AADC deficiency. 

There are a number of diagnostic tests for AADC deficiency, as Ms. O’Keefe says. PTC Pinpoint is one such test available in the U.S. and no-cost to physicians and families. 

For more information about AADC deficiency, visit checkrare.com/aadc-deficiency/