Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model.

This is the first qualitative study to report on the experience of living with AADC deficiency. Caregivers report individuals with AADC deficiency experience a wide range of symptoms and functional impairments, which have a substantial impact on their health-related quality of life.