Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

► We screened AADC deficiency in suspected cases by GC-MS urine metabolic profiling. ► It showed to be a reasonable screening method with satisfactory performance. ► The method avoids the invasive lumbar puncture, allowing more cases to be screened. ► By this method we diagnosed the first two cases in a 7 m population in 31 months. ► The intron 6 splicing mutation is likely a founder mutation originating from China.