Publication: Case report: Discovery of two gene variants for aromatic L-amino acid decarboxylase (AADC) deficiency in two African-American siblings

This case report, published in BMC Neurology, describes the clinical presentation and diagnosis of 2 patients with AADC deficiency with gene variants not previously associated with the disorder

  • A case presentation of 2 African-American siblings with AADC deficiency presenting with DDC gene variants not previously associated with the disorder
  • Understand the role of neurotransmitter metabolite levels, genetic sequencing, and AADC enzyme activity analyses in the differential diagnosis of the condition in both siblings

Monteleone B, Hyland K. BMC Neurology. 2020;20(1):12

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