Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
复制标题
芳香族l-氨基酸脱羧酶（AADC）缺乏症诊断和治疗共识指南。
DOI：
10.1186/s13023-016-0522-z
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发表时间：
2017-01-18
影响因子：
3.7
通讯作者：
Opladen T
中科院分区：
文献类型：
--
作者：
Wassenberg T;Molero-Luis M;Jeltsch K;Hoffmann GF;Assmann B;Blau N;Garcia-Cazorla A;Artuch R;Pons R;Pearson TS;Leuzzi V;Mastrangelo M;Pearl PL;Lee WT;Kurian MA;Heales S;Flint L;Verbeek M;Willemsen M;Opladen T
芳香族L-氨基酸脱羧酶缺乏症（AADCD）是一种罕见的常染色体隐性遗传神经代谢疾病，可导致血清素、多巴胺、去甲肾上腺素和肾上腺素的严重联合缺乏。发病于生命早期，主要临床症状为张力减退、运动障碍（动眼危象、肌张力障碍和运动功能减退）、发育迟缓和自主神经症状。在该共识指南中，神经递质相关疾病国际工作组（iNTD）的代表和患者代表评估了AADCD诊断和治疗的所有可用证据，并使用SIGN和GRADE方法提出了建议。在有限的确切证据面前，我们对临床诊断、实验室诊断、影像学和脑电图、药物治疗和非药物治疗提出了实用的建议。此外，我们确定了进一步研究的主题。我们相信这一指南将改善全世界AADCD患者的护理，同时促进对这种罕见疾病的普遍认识。本文的在线版本（doi：10.1186/s13023-016-0522-z）包含补充材料，可供授权用户使用。
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease. The online version of this article (doi:10.1186/s13023-016-0522-z) contains supplementary material, which is available to authorized users.