News

First Mouse Model of AADC Deficiency Developed, Researchers Report

A mouse model of aromatic l-amino acid decarboxylase (AADC) deficiency, carrying a frequent mutation in patients with the condition, has been developed for the first time, according to researchers. Findings from this new model indicate that low levels of the neurotransmitter serotonin are associated with characteristic symptoms. The study, “…

Researchers Develop Guidelines for Diagnosing, Managing, and Treating AADC Deficiency

The International Working Group on Neurotransmitter Related Disorders (iNTD) has created guidelines for the care of patients with aromatic L-amino acid decarboxylase (AADC) deficiency. Titled, “Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency,” the guidelines were published in Orphanet Journal of…

Gene Therapy Corrects Irregular Brain Activity in AADC Deficiency, Mouse Study Shows

A generalized dopamine deficiency in aromatic L-acid decarboxylase (AADC) deficiency causes some neurons to be overly active, which may contribute to the motor dysfunction associated with the condition, researchers report. A gene therapy that restores brain dopamine levels seems to repair these abnormalities, their study shows. The study, “Electrical…

DDC Gene Mutation Study Advances AADC Deficiency Research

Antisense oligonucleotides (ASOs) — short nucleic acid molecules used to modulate protein production — can be used to correct abnormal dopa decarboxylase (DDC) processing in cells from patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a new study reports. The study, “Antisense oligonucleotides modulate dopa decarboxylase function in…