Interpretation of consensus guidelines for diagnosis and treatment of aromatic L-amino acid decarboxylase deficiency / 中华实用儿科临床杂志

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.