Marisa Wexler, MS,  senior science writer—

A new mutation in the DDC gene was identified as the cause of aromatic L-amino acid decarboxylase (AADC) deficiency in a baby boy in the United Arab Emirates (UAE), scientists report. This marks the first documented case of AADC deficiency in the UAE and one of the few reported in the…

People with AACD deficiency commonly experience emotional problems and intellectual disability, though the severity of cognitive impairment varies markedly among patients, a new study indicates. “Our study provides further evidence that AADCD requires specific neurological and neuropsychological assessments to monitor the disease,” the study’s researchers wrote. The study, “Long-term…

Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose AADC deficiency. The assay, which uses liquid chromatography-tandem mass spectrometry, was detailed in a study, “Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of…

Note: This story was updated on July 21, 2022, to note PTC is planning to request FDA approval of Upstaza. The European Commission has approved the gene therapy Upstaza (eladocagene exuparvovec) to treat aromatic l-amino acid decarboxylase (AADC) deficiency in patients ages 18 months and older. The approval…

Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system, according to a new review paper that called it “a debilitating disease that significantly impacts quality of life for individuals and caregivers.” The review found that people with AADC deficiency…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Motor symptoms have a substantial negative impact on the life quality of people with AADC deficiency and their caregivers, a new study involving interviews with more than a dozen parents and other caregivers reports. This finding highlights a need for therapies that can ease motor dysfunction in AADC deficiency,…

A team led by scientists at PTC Therapeutics has calculated health utilities — quantitative values for assessing health — for aromatic l-amino acid decarboxylase (AADC) deficiency based on data from a survey conducted in France. The findings, in combination with earlier work done in the U.K., could be helpful…

A trio of researchers in the U.K. has calculated health utilities for AADC deficiency, a quantitative measure of health value that will be useful for assessing the economic health value of future treatments. Results were published in the study “Eliciting health state utilities for Aromatic L-amino…

Anxiety and distractibility are among the most common problems reported by people living with AADC deficiency and other disorders that affect neurotransmitter production, according to a new study. Results also highlighted that children with these conditions often view their quality of life more favorably than their parents do. “A…