Steve Bryson, PhD, science writer —

A 62-year-old woman was found to have acquired aromatic L-amino acid decarboxylase (AADC) deficiency due to a self-directed autoimmune attack, a case study reported. She also had severe orthostatic hypotension, or a drop in blood pressure when standing up, which was successfully treated with vitamin B6 supplements,…

Machine learning, a form of artificial intelligence (AI), was applied to electronic health records to identify young people who may have undiagnosed aromatic l-amino acid decarboxylase (AADC) deficiency, a study reports. Based on a manual review, nearly 23% of the top-ranked predicted cases were…

About one in 10 medications sold in Canada have a patient support program provided by its manufacturer, and nearly half are for rare diseases. That’s according to a study in Canada that also found that patient support programs were offered more commonly for brand-name and expensive drugs. These programs, offered…

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…

Note: This story has been updated May 25, 2023, to state that data from the two children in the report were part of the data package that supported Upstaza’s approval in the European Union and the U.K. The first two aromatic l-amino acid decarboxylase (AADC) deficiency patients older than…

The route of administration now used for the gene therapy Upstaza (eladocagene exuparvovec) — directly into the brain region, called the putamen, that’s affected by aromatic L-amino acid decarboxylase (AADC) deficiency — is better than other modes of delivery, an animal study showed. The other tested routes included…

PacBio‘s HiFi DNA sequencing technology will be used in a pilot project to detect new genetic variants associated with rare childhood diseases, such as AADC deficiency. Run by the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital, in Massachusetts, the project involves a detailed analysis…

Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported, the first study to identify and characterize previously unknown DDC variants. “Given that genetic testing is a core diagnostic test for AADC deficiency, a comprehensive catalogue of the genetic variants…

A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes fixed upward due to spasms in the eye muscles — are all hallmark signs of aromatic l-amino acid decarboxylase (AADC) deficiency, with symptom onset occurring within 6 months of…

Symptoms that mimicked epilepsy led to the misdiagnosis of a Chinese infant girl with aromatic l-amino acid decarboxylase (AADC) deficiency, a case study reported. The researchers noted the case emphasizes the difficulty distinguishing between epileptic episodes, or seizures, and oculogyric crisis — a common symptom of AADC…