A boy with a severe form of aromatic L-amino acid decarboxylase (AADC) deficiency was able to walk independently — and later run — after receiving the gene therapy Kebilidi (eladocagene exuparvovec), according to a new case report. The child, now 5, showed rapid and sustained improvements in movement…
Discussion
During my teacher training, one concept stuck with me: the first critical period of brain development occurs very early in life, between ages 2 and 7. At the time, it felt like one of those powerful, slightly intimidating facts professors love to emphasize. You nod, write it…
Genetic testing data collected at diagnosis may help guide medication use in people with rare diseases such as AADC deficiency, a new study shows. Researchers found that nearly a third of rare disease patients have at least one genetic variation that could influence how their bodies respond to medications…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
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