Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Congress activities | Society for Inherited Metabolic Disorders (SIMD) | SIMD 2022 Infographic: Advancing the diagnosis and management of a rare neurometabolic disorder: A focus on AADC deficiency

SIMD 2022 Infographic: Advancing the diagnosis and management of a rare neurometabolic disorder: A focus on AADC deficiency

View our infographic, distributed at the PTC Therapeutics symposium at the 2022 SIMD Annual Meeting, which introduces aromatic L-amino acid decarboxylase (AADC) deficiency, describes the key signs and symptoms of the condition, and outlines the tests required for diagnosis

  • Find out more about the signs and symptoms of AADC deficiency that may raise clinical suspicion and warrant further testing
  • Learn more about the preliminary tests which may be used to screen for AADC deficiency, and the core diagnostic tests needed to obtain definitive confirmation of the condition
  • Understand the importance of securing an early and accurate diagnosis for patients with AADC deficiency

Eladocagene exuparvovec is an investigational gene therapy product currently being developed by PTC Therapeutics for the treatment of patients with deficiency of a protein called AADC. Eladocagene exuparvovec does not currently have a marketing authorization for the treatment of AADC deficiency.

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MED-ALL-AADC-2200063 I July 2022
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