Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.

Abstract excerpt

AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first-line choices) can only alleviate the symptoms. Gene therapy...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Metabolism, Inborn Errors
• Share to Genetic Therapy