Neurológia pre prax 5/2022

Aromatic amino acid decarboxylase deficiency (AADC). Perhaps a more common cause of delayed psychomotor development than it might seem

Aromatic L-amino acid decarboxylase deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis that leads to a severe combined deficiency of catecholamines, dopamine and serotonin. The disease occurs during infancy with developmental delay, hypotonia, movement disorder with oculogyric crises, vegetative symptoms and other manifestations. In general, little awareness of this disease, heterogeneous clinical manifestation and severity of the phenotype, along with methodologically complex diagnostics, often results in incorrect categorization of these patients and contributes to the fact that the disease remains underdiagnosed worldwide. The article provides a comprehensive overview of clinical symptoms of the disease and current diagnostic trends including new screening options. It also summarizes information on symptomatic and causal gene therapy.

Keywords: AADC deficiency, 3-O-methyldopa, DDC gene, psychomotoric delay, oculogyric crises