RESUMO
BACKGROUND: Aromatic L-amino acid decarboxylase deficiency (AADCd) is an ultra-rare genetic neurometabolic disorder caused by mutations in the DDC gene. OBJECTIVE: This retrospective, noninterventional study was designed to describe the burden of AADCd including the associated healthcare resource utilization in Southern Europe. METHODS: Eleven clinicians completed a patient case study survey for patients with AADCd currently or previously under their care, followed by an interview with each clinician to assess healthcare resource utilization, patient characteristics, and symptoms. RESULTS: Clinicians provided data for 20 patients with AADCd, of whom 60% were male. All patients experienced movement disorders, 90% exhibited developmental delay, 85% reported sleeping problems, and 80% experienced gastrointestinal problems. The symptoms varied with disease severity. Patients with AADCd received care from more than 16 different specialists including both medical and paramedical healthcare professionals. Hospitalizations and visits to accident and emergency departments were also frequent. CONCLUSION: In terms of symptoms and healthcare resource utilization, the burden of illness of AADCd is substantial. This study provides insights into several aspects of the disease that are difficult to ascertain from published case reports.