Claudio Santos, MD, MBA, of PTC Therapeutics describe the pathophysiology of Aromatic l-amino acid decarboxylase (AADC) deficiency and how it is diagnosed.

AADC deficiency is a rare genetic disorder due to mutations in the DDC gene that regulates the AADC enzyme. Loss of this enzyme leads to severe developmental delay as well as numerous neuromuscular problems. Many children with AADC deficiency may experience oculogyric crises that involves abnormal rotation of the eyeballs. This, along with other symptoms (ptosis, poor control of autonomic nervous system, extreme irritability and agitation, pain, muscle spasms, and uncontrolled movements) can help lead to a proper diagnosis.

PTC therapeutics is developing a gene therapy to treat persons with AADC deficiency.