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Home | Central nervous system | Aromatic L-amino acid decarboxylase (AADC) deficiency | Publications | Publication: Case report: Discovery of 2 gene variants for aromatic L-amino acid decarboxylase (AADC) deficiency in 2 African-American siblings

Publication: Case report: Discovery of 2 gene variants for aromatic L-amino acid decarboxylase (AADC) deficiency in 2 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
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Monteleone B, Hyland K. BMC Neurology. 2020;20(1):12

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