Publication: Prevalence of aromatic L-amino acid decarboxylase (AADC) deficiency in at-risk populations

This original article, published in the Pediatric Neurology journal, outlines the prevalence of AADC deficiency in an at-risk population and discusses the implications on the understanding of the epidemiology and genetics of AADC deficiency

  • Review the outcomes of a retrospective analysis of 19,577 cerebrospinal fluid samples initially diagnosed by one of the recommended core diagnostic tests
  • The additional cases of AADC deficiency identified from combined results from these analyses are presented and the implications on the estimated prevalence are discussed
  • Understand the importance of functional studies when investigating pathogenicity of variant changes in this gene

Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42

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