Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
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Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.
Condition or disease
Aromatic L-amino Acid Decarboxylase Deficiency
Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency. The routine newborn screening dried blood spots sample will be used to test if 3-O-methyldopa (3-OMD) concentration elevates. If positive of screening test, further confirmation tests including physical examination and for mutation. Genetic counseling and treatment option will be provided, too.
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Layout table for eligibility information
Ages Eligible for Study:
up to 3 Months (Child)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
newborns whose parents agree to be tested
Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
Parents or Legal Guardian sign in the informed consent form.
Parents or Legal Guardian do not agree to sign in the informed consent form.