目的 探讨芳香族 L- 氨基酸脱羧酶缺乏症（AADCD）的临床表型及遗传学特点。方法 回顾分析 1 个 AADCD家系的临床资料，并复习相关文献。结果 家系中2例同胞兄弟均在3月龄发病，主要表现为动眼危象、发育迟 缓、肌张力低下、多汗。全外显子测序检测到患儿DDC基因c. 714 + 4（IVS6）A>T和c. 1234（exon 13）C>T复合杂合变 异，前者来源于父亲，后者来源于母亲。结论 DDC基因c. 714 + 4（IVS 6）A>T和c. 1234（exon 13）C>T复合杂合变异的 AADCD临床表型常为重型、发病早。

Objective To explore the clinical phenotypic and genetic characteristics of aromatic L-amino acid decarboxylase deficiency (AADCD). Methods The clinical data of one family with AADCD were retrospectively analyzed, and the relevant literature was reviewed. Results The two siblings in the family all had onset at 3 months of age, and the main manifestations were eye movement crisis, developmental retardation, hypotension and hyperhidrosis. A compound heterozygous variants of c. 714 + 4 (IVS 6 ) A>T and c. 1234 (exon 13 ) C>T in DDC gene were detected by whole exon sequencing, and the former originated from father and the latter originated from mother. Conclusion The clinical phenotype of AADCD with compound heterozygous variants of c.714 + 4 (IVS 6 ) A>T and c.1234 (exon 13 ) C>T in DDC gene is often severe and has early onset.