Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Congress activities | The National Society of Genetic Counselors (NSGC) | NSGC 2023 infographic: Towards an earlier diagnosis of AADC deficiency: Pathogenesis of AADC deficiency

NSGC 2023 infographic: Towards an earlier diagnosis of AADC deficiency: Pathogenesis of AADC deficiency

This infographic, distributed at NSGC 2023, provides an overview of the development of aromatic L-amino acid decarboxylase (AADC) deficiency, as well as the preliminary and core diagnostic tests that should be used for patients with key signs and symptoms

  • Learn about the underlying genetic and neurological causes of AADC deficiency, a rare inherited disorder
  • Understand how these causes translate into the common signs and symptoms of AADC deficiency
  • Read about the key diagnostic tests that may help to achieve earlier diagnosis

This infographic was developed and funded by PTC Therapeutics for NSGC 2023.

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MED-ALL-AADC-2300236 | November 2023
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