Aromatic L-amino acid decarboxylase deficiency: a systematic review
| Autor: | Mats Bergkvist, Carolyn Stephens, Traci Schilling, Antonia Wang, Xiaojin Yu, Elizabeth Goodwin, Lee Golden, Allan Kristensen, Matthew Klein |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Future Neurology. 17 |
| ISSN: | 1748-6971 1479-6708 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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