Clinical Chemistry
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Clinical Chemistry 38: 2405-2410, 1992;
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Clinical Chemistry, Vol 38, 2405-2410, Copyright © 1992 by American Association for Clinical Chemistry

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

K Hyland and PT Clayton
Department of Child Health, Institute of Child Health, London, UK.

Aromatic L-amino acid decarboxylase (EC. 4.1.1.28) deficiency is a newly described inborn error of metabolism that affects serotonin and dopamine biosynthesis. The major biochemical markers for this disease are increases of L-dopa, 3-methoxytyrosine, and 5-hydroxytryptophan in urine, plasma, and cerebrospinal fluid together with decreased cerebrospinal fluid concentrations of homovanillic acid and 5- hydroxyindoleacetic acid. In addition, concentrations of vanillactic acid are increased in the urine. Specific HPLC and gas chromatography- mass spectrometry methods are described that permit the identification and measurement of these metabolites in the above body fluids. Simplified assays for human plasma L-dopa decarboxylase and liver L- dopa and 5-hydroxytryptophan decarboxylase, used to demonstrate the enzyme deficiency, are also reported.


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Copyright © 1992 by the American Association for Clinical Chemistry.