Infographic: Pediatric neurotransmitter disorders: Recognizing aromatic L-amino acid decarboxylase (AADC) deficiency among its mimics

View an introduction to AADC deficiency and its differential diagnosis

  • An overview of the spectrum of symptom severity presented by the heterogeneous group of neurometabolic disorders of impaired biogenic amine metabolism is discussed
  • Review the genetic basis and characteristic symptomatology of AADC deficiency among other monoamine neurotransmitter disorders
  • Understand the challenge of symptom overlap in clinical presentation of neurotransmitter disorders and the common causes of misdiagnosis with two disorder mimics: cerebral palsy and epilepsy

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

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MED-ALL-AADC-2200158 | February 2023
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