Newborn Screening for Adrenoleukodystrophy

Newborn Screening for Adrenoleukodystrophy

To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)

Parents of newborns will be invited to test if their newborns are affected with ALD. The routine newborn screening dried blood spots sample will be used to test the concentration of C26:0-lyso-PC . If positive of a screening test, further confirmation tests including physical examination and other methodology for ALD confirmation will be provided. Genetic counseling and treatment option will be provided, too.

Inclusion Criteria:

• Babies born in Taiwan receive regular newborn 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.