David Melamed,  —

PTC, Invitae Launch Free Genetic Testing to Improve AADC, Other Diagnoses

PTC Therapeutics and Invitae have partnered to launch a free genetic testing program that helps diagnose neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency, in people who are suspected of having such conditions. Called PTC PINPOINT, the program is designed to ensure expedient…

Non-invasive Urine Test May Help in AADC Deficiency Diagnosis, Case Report Says

A case study of a 3-month-old patient provided evidence to support the use of a urine organic acid analysis in the diagnosis of aromatic l-amino acid decarboxylase (AADC) deficiency, offering a non-invasive approach for identifying the disease. The report, “Urine Organic Acid (UOA) Analysis for…