Current medical research and opinion
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The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported in the published literature and to collate evidence of the clinical manifestations of AADCd, and the impact of the disease on patients, caregivers, and healthcare systems. ⋯ Irrespective of the ambulatory status of individuals, AADCd is a debilitating disease that significantly impacts quality-of-life for individuals and caregivers. It impacts the healthcare system due to the need for complex coordinated activities of a multidisciplinary specialist team.