Enzyme study may bring insights into AADC deficiency’s causes

The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.

Phreesia acquires MediFind to expand offerings, inform patients

Phreesia has acquired MediFind, which uses advanced analytics to help patients, particularly those with serious, chronic, and rare disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency, find better care. Phreesia offers digital solutions to healthcare providers, life sciences companies, and other organizations  to help patients take…

Experts urge new guidelines for gene therapy in AADC deficiency

A group of international experts in aromatic L-amino acid decarboxylase (AADC) deficiency and similar neurologic conditions have developed guidelines for the safe application of gene therapy in AADC patients, and for needed outcome follow-up. The new recommendations come within a year of approvals in the European Union and the…