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Use: Aromatic L-amino acid decarboxylase (AADC) is a pyridoxal 5'-phosphate dependent enzyme responsible for the formation of dopamine and serotonin. AADC deficiency is a congenital autosomal recessive metabolic disorder that causes hypotonia, hypokinesia, oculogyric crises, and signs of autonomic dysfunction beginning in infancy. In AADC deficiency, L-dopa accumulates and can be methylated by catechol O-methyltransferase using S-adenosylmethionine as the methyl donor to form 3-O-methyldopa (3-OMD). 3-OMD is more stable than L-dopa and can be detected in blood.
Limitations: This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology: Liquid chromatography/tandem mass spectrometry (LC/MS-MS)
