Article
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
Molecular genetics and metabolism - 1 Jan 2000
Atwal Paldeep S, Donti Taraka R, Cardon Aaron L, Bacino C A, Sun Qin, Emrick L, Reid Sutton V, Elsea Sarah H
Abstract excerpt
Aromatic L-amino acid decarboxylase (AADC) deficiency is an inborn error of metabolism affecting the biosynthesis of serotonin, dopamine, and catecholamines. We report a case of AADC deficiency that was detected using the Global MAPS platform. This is a novel platform that allows for parallel clinical testing of hundreds of metabolites in a single plasma specimen. It uses a state-of-the-art mass spectrometry...
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