Keith Hyland, PhD, discusses how genetic testing can play a role in understanding the molecular basis of Aromatic L-amino Acid Decarboxylase (AADC) deficiency and the implications for disease inheritance and severity
Hyland: Why conduct genetic testing for AADC deficiency? Because you want to know really what’s causing that disorder.
You can look to see how that variant, pathogenic variant, affects the protein structure, which will give you clues as to how the actual enzyme works. You can use the information to determine whether siblings of the affected child are carriers for the disorder, which parent is carrying which particular variant because it’s a recessively inherited disease.
If you do genetic testing, you will find the exact base or the change that happens at the level of the DNA. That may give you a clue as to, for instance, severity of the disease.