Publication: Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia

This case report, published in Front Pediatr, describes the genetics, symptoms, treatment and clinical outcomes of 3 patients with aromatic L-amino acid decarboxylase (AADC) deficiency from the Kingdom of Saudi Arabia

  • Review genetic family history in patients with AADC deficiency
  • Recognise the need for increased disease awareness among healthcare professionals to facilitate earlier diagnosis and clinical outcomes
  • Discover the importance of improving diagnostic testing for AADC deficiency

Abukhaled M, et al. Front Pediatr. 2023;10:1016239

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