Publication: Aromatic L-amino acid decarboxylase (AADC) deficiency: Molecular and metabolic basis and therapeutic outlook

This review article, published in the Molecular Genetics and Metabolism journal, outlines hallmark symptoms of AADC deficiency and discusses recommended diagnostic tests, current strategies for management, and potential new treatment options under investigation for AADC deficiency

  • An overview of the historical background and epidemiology of AADC deficiency and the importance of AADC in neurologic function is discussed
  • Review the wide range of clinical presentations observed and reported in the literature and understand the genetic and molecular basis of disease manifestation
  • Understand the current management of AADC deficiency including pharmacological therapies considered first-line and the outlook of a gene therapy under investigation for AADC deficiency

Himmelreich N, Montioli RM, Bertoldi M, et al. Mol Genet Metab. 2019;127(1):12–22

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