Clinical manifestation and genetic analysis of aromatic L-amino acid decarboxylase deficiency in a family

  • CAI Huiqiang ,
  • HU Shuxiang ,
  • CAI Shuying ,
  • et al
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  • Department of Pediatric Neurology Rehabilitation, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen 361003, Fujian, China

Online published: 2021-04-15

Abstract

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.

Cite this article

CAI Huiqiang , HU Shuxiang , CAI Shuying , et al . Clinical manifestation and genetic analysis of aromatic L-amino acid decarboxylase deficiency in a family[J]. Journal of Clinical Pediatrics, 2021 , 39(4) : 279 . DOI: 10.3969/j.issn.1000-3606.2021.04.010

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