Alejandra Viviescas, PhD,  —

A technique that measures the levels of different metabolites — the products of cellular metabolism — of dopamine could serve as a non-invasive method to diagnose AADC deficiency, a study says. The study, “Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations,” was published…

A gene therapy consisting of a viral vector carrying the DDC gene improved motor and cognitive functions in children with AADC deficiency, according to a Phase 1/2 trial. The study, “Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency,” was published in Brain.

Patients with only one mutated copy of the DDC gene may present delayed or milder symptoms of AADC deficiency — including behavioral abnormalities as sole manifestations — that often lead to late diagnosis and further complications, a case report shows. The study, “When dysphoria is not a primary…