Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Newborn Screening for 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.
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.
Inclusion Criteria:
Exclusion Criteria: