PDF(Pubmed)
Abstract：
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.
摘要：
芳香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紊乱，导致5-羟色胺严重缺乏，多巴胺,去甲肾上腺素和肾上腺素.发病是在生命的早期，关键的临床症状是张力减退，运动障碍(眼病，肌张力障碍,和运动功能减退)，发育迟缓,和自主神经症状。在这个共识准则中，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诊断和治疗的所有现有证据,并使用SIGN和GRADE方法提出了建议.面对有限的确凿证据,我们构建了实用的临床诊断建议，实验室诊断,影像学和脑电图，医疗和非医疗。此外，我们确定了进一步研究的主题。我们相信该指南将改善世界各地AADCD患者的护理，同时促进对这种罕见疾病的普遍认识。
