Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency
Journal
Molecular genetics and metabolism
Date Issued
2023-08-15
Author(s)
Abstract
Aromatic L-amino-acid decarboxylase (AADC) deficiency diagnosis is often delayed by low disease awareness and specific laboratory examinations. We demonstrated that an elevated concentration of L-dopa metabolite 3-O-methyldopa (3-OMD) in dried blood spots could be integrated into a newborn screening program to detect AADC deficiency.
Subjects
3-O-methyldopa; AADC deficiency; Aromatic L-amino-acid decarboxylase; Expanded newborn screening; High performance liquid chromatography; Tandem mass spectrometry
SDGs
Type
journal article