Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

291336

Rapid Screening of Newborns for AADC Deficiency Possible, Study Says

Diagnosing aromatic L-amino acid decarboxylase (AADC) deficiency  in newborns is “feasible” using dried blood spots and readily available equipment, allowing for earlier and more effective treatment, researchers report. The study detailing this method, “Detection of 3-o-methyldopa in dried blood spots for neonatal diagnosis of aromatic l-amino-acid decarboxylase deficiency: the North-eastern Italian experience,” was published in the journal Molecular Genetics and Metabolism. AADC symptoms typically appear within the first months after birth, leading to developmental delays and movement…

You must be logged in to read/download the full post.