Home | Central Nervous System | Aromatic L-amino acid decarboxylase (AADC) deficiency | Webinars | Infographic: Metabolomic screening for early diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency

Infographic: Metabolomic screening for early diagnosis of aromatic L-amino acid decarboxylase (AADC) deficiency

The role of metabolomic screening in accelerating the diagnosis of AADC deficiency

  • Review the molecular, genetic, and biochemical basis of AADC deficiency and the importance of testing to aid early diagnosis
  • The role of 3‐O‐methyldopa (3‐OMD) and vanillactic acid as candidate biomarkers for metabolomic screening techniques as adjuncts to existing screening programs are discussed

A summary of the fourth webinar of ‘The Road Less Travelled: Finding a path to diagnosis in rare neurotransmitter disorders’ Masterclass Webinar series.

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US-AADC-0460 | February 2022
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