Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Aromatic L-amino Acid Decarboxylase Deficiency Clinical Trial

Official title: Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency

Status Completed

Clinical Trial Summary

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

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Amino Acid Metabolism, Inborn Errors
• Aromatic L-amino Acid Decarboxylase Deficiency

• NCT number: NCT02399761
• Study type: Observational
• Source: National Taiwan University Hospital
• Status: Completed
• Phase: N/A
• Start date: August 2012
• Completion date: July 2016