Author Archives: Alejandra Viviescas, PhD

Dopamine-related Metabolites Could Help Diagnose AADC Deficiency Non-invasively, Study Says

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…

Gene Therapy Improves AADC Deficiency Symptoms in Children, Trial Shows

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.

Behavioral Abnormalities May Be Sole Symptom of AADC Deficiency, Case Report Shows

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…