Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population

Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare genetic disorder that affects the production of neurotransmitters in the brain and can cause severe neurological and developmental problems. Early diagnosis may allow affected children to be referred promptly for specialist care and evaluation for available treatments, including gene therapy. The purpose of this study is to develop a newborn screening protocol for AADC-D in the neonatal population of Liguria, Italy, and to estimate the incidence of the disease in this population. The study will also establish reference values for 3-O-methyldopa (3-OMD), a biochemical marker used to identify newborns who may have AADC-D, and determine appropriate screening cut-off values. Approximately 16,000 newborns born in participating hospitals in Liguria will be included in the study. After informed consent is obtained from their pa