High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots

Aromatic l ‐amino‐acid decarboxylase (AADC) deficiency is an inherited disorder of biogenic amine metabolism with a broad neurological phenotype. The clinical symptoms overlap with other diseases resulting in an often delayed diagnosis. Innovative disease‐changing treatment options, particularly gene therapy, have emphasised the need for an early diagnosis. We describe the first method for 3‐ O ‐methyldopa (3‐OMD) analysis in dried blood spots...