Report Describes Sisters With Very Mild AADC Deficiency

Report Describes Sisters With Very Mild AADC Deficiency

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Report Describes Sisters With Very Mild AADC Deficiency

Two sisters with unusually mild cases of aromatic L-amino acid decarboxylase (AADC) deficiency were described in a recent report. “Our patients may show the most attenuated [mild] type of AADC deficiency. This indicates the importance of ruling out the possibility of AADC deficiency in patients who present with similar features,” the researchers wrote, noting that identifying atypical cases of the disease will be especially important as new therapies are developed. The report, “Novel variants in…

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