Aromatic L-amino acid decarboxylase deficiency: a systematic review

Aim: To gain greater knowledge regarding the natural history of aromatic L-amino acid decarboxylase (AADC) deficiency, a genetic disorder that causes severe deficits in motor and cognitive development. Materials & methods: A systematic literature review was performed of all case reports and clinical studies published through December 2019 of patients with AADC deficiency. The data were summarized descriptively. Results: The search identified 94 publications that described 237 unique patients. Mean (standard deviation) age at diagnosis was 3.2 (±5.7) years and 16 deaths were reported. Most patients (57%) received the standard of care therapies, which showed limited efficacy in this patient population. Conclusion: AADC deficiency is a devastating disease and prospectively defined natural history studies are warranted to further understand this disease.