Aromatic L-amino acid decarboxylase deficiency: a systematic review

IF 0.6 Q4 CLINICAL NEUROLOGY

Future Neurology Pub Date : 2022-09-23 DOI:10.2217/fnl-2022-0012

Mats Bergkvist, C. Stephens, T. Schilling, Antonia Wang, Xiao-li Yu, Elizabeth Goodwin, L. Golden, A. Kristensen, Matthew Klein

引用次数: 5

Abstract

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.

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芳香族L-氨基酸脱羧酶缺乏症的系统综述

目的：了解芳香族L-氨基酸脱羧酶（AADC）缺乏症的自然史，这是一种导致运动和认知发育严重缺陷的遗传性疾病。材料和方法：对截至2019年12月发表的AADC缺乏症患者的所有病例报告和临床研究进行了系统的文献综述。对数据进行了描述性总结。结果：搜索发现了94篇描述237名独特患者的出版物。诊断时的平均（标准差）年龄为3.2（±5.7）岁，报告了16例死亡。大多数患者（57%）接受了标准护理疗法，在这一患者群体中显示出有限的疗效。结论：AADC缺乏症是一种破坏性疾病，有必要进行前瞻性的自然史研究来进一步了解这种疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Future Neurology CLINICAL NEUROLOGY-

CiteScore

2.10

自引率

0.00%

发文量

期刊介绍： The neurological landscape is changing rapidly. From the technological perspective, advanced molecular approaches and imaging modalities have greatly increased our understanding of neurological disease, with enhanced prospects for effective treatments in common but very serious disorders such as stroke, epilepsy, multiple sclerosis and Parkinson’s disease. Nevertheless, at the same time, the healthcare community is increasingly challenged by the rise in neurodegenerative diseases consequent upon demographic changes in developed countries.