Interpretation of consensus guidelines for diagnosis and treatment of aromatic L-amino acid decarboxylase deficiency
10.3760/cma.j.cn101070-20190606-00501
- VernacularTitle:芳香族L-氨基酸脱羧酶缺乏症的诊断和治疗共识指南解读
- Author:
Fang ZHOU
1
;
Yuxia CUI
;
Hao ZHOU
Author Information
1. 贵州省人民医院儿科，贵阳 550002
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(11):805-809
- CountryChina
- Language:Chinese
-
Abstract:
Aromatic L-amino acid decarboxylase deficiency(AADCD) is a rare early-onset autosomal recessive genetic neurometabolic disease which can be treated with target therapy.To find, diagnose and treat at its early stage is important to improving the prognosis.The international neurotransmitter-related diseases working group (iNTD) developed the consensus guidelines for the diagnosis and treatment of AADCD in 2017, which provided reco-mmendations based on the consensus to facilitate the diagnosis, treatment and long-term management of patients.This article interpreted and summarized the clinical symptoms and treatment of AADCD according to the consensus, in order to raise pediatric clinicians′ awareness and treatment level of the disease.
