Neurol. praxi. 2026;27(2):101-106 | DOI: 10.36290/neu.2026.012

Hope through gene therapy: a modern approach to treating AADC deficiency

MUDr. Martin Macháček^{1, 2}, doc. MUDr. Hana Ošlejšková, Ph.D.¹, doc. MUDr. Pavlína Danhofer, Ph.D.¹

¹ Klinika dětské neurologie LF MU a FN Brno

² Fyziologický ústav LF MU, Brno

Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare and underdiagnosed neurotransmitter disorder caused by autosomal recessive mutations in the DDC gene. The resulting enzyme deficiency leads to reduced synthesis of monoamine neuromodulators, causing severe impairment of motor, behavioral, and autonomic functions. Until recently, therapy was purely symptomatic, relying on dopamine agonists, monoamine oxidase inhibitors, and pyridoxine. The introduction of eladocagene exuparvovec gene therapy represents a major breakthrough. This stereotactically guided intraputaminal administration of an AAV vector carrying the functional DDC gene enables causal treatment with excellent clinical outcomes. The authors present an overview of this therapeutic approach for AADC-D.

Keywords: monoamine neuromodulators; AADC deficiency; psychomotor retardation; eladocagene exuparvovec; gene therapy.

Received: February 3, 2026; Revised: February 3, 2026; Accepted: March 10, 2026; Prepublished online: March 10, 2026; Published: April 29, 2026  Show citation