1. Academic Validation
  2. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology

  • Clin Chem. 1992 Dec;38(12):2405-10.
K Hyland 1 P T Clayton
Affiliations

Affiliation

  • 1 Department of Child Health, Institute of Child Health, London, UK.
PMID: 1281049
Abstract

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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