Aromatic amino acid decarboxylase - exploring the structural and functional role of its N-terminal domain using deficiency-associated variants

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25 Oct 2026 0 comments

AADC deficiency is a rare autosomal recessive disorder characterized by motor/neurodevelopmental symptoms. Approximately one-third of patients experience recurrent hypoglycemia, with or without neurological involvement. To investigate whether specific variants identified in hypoglycemic patients underlie this metabolic phenotype, we characterized three amino-terminal variants. The crystal structure of p.Asp15Gly revealed disruption of an inter-subunit electrostatic network stabilizing the enzyme...