Members of the European Parliament (MEPs) spanning party lines have called for a coordinated effort focused on improving the lives of the estimated 30 million people living with a rare disease in the European Union, according to a press release from EURORDIS – Rare Diseases Europe. Such an initiative…
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As the summer sun shines brightly, it presents an excellent opportunity for families to make plans that can significantly affect the social development of children with aromatic l-amino acid decarboxylase (AADC) deficiency and other rare diseases. For parents like Judy and me, the summer months aren’t just about relaxation.
Scientists created a new cell model of AADC deficiency that has allowed them to understand exactly how two disease-causing mutations in the DDC gene affect the AADC enzyme. According to the team, the new model “is useful to study the molecular basis of the disease.” It “recapitulates some key…
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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