Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

National Taiwan University

Status: Completed

Conditions: Aromatic L-amino Acid Decarboxylase Deficiency

Study type: Observational

Funder types: Other

Identifiers

NCT02399761

201205084RIC

Details and patient eligibility

About

Parents of newborns will be invited to test if their newborns are affected with Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

Full description

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.

Enrollment: 154,795 patients

Sex: All

Ages: Under 3 months old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• 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.

Exclusion criteria

• Parents or Legal Guardian do not agree to sign in the informed consent form.