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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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5-Hydroxytryptophan / blood
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5-Hydroxytryptophan / cerebrospinal fluid
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5-Hydroxytryptophan / urine
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Aromatic-L-Amino-Acid Decarboxylases / deficiency*
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Aromatic-L-Amino-Acid Decarboxylases / metabolism
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Child
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Child, Preschool
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Chromatography, High Pressure Liquid
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Dopa Decarboxylase / blood
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Dopa Decarboxylase / metabolism
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Gas Chromatography-Mass Spectrometry
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Homovanillic Acid / analogs & derivatives
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Homovanillic Acid / cerebrospinal fluid
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Homovanillic Acid / urine
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Humans
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Hydroxyindoleacetic Acid / cerebrospinal fluid
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Infant
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Levodopa / blood
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Levodopa / cerebrospinal fluid
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Levodopa / urine
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Liver / enzymology
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Metabolism, Inborn Errors / diagnosis*
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Reference Values
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Tyrosine / analogs & derivatives
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Tyrosine / blood
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Tyrosine / cerebrospinal fluid
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Tyrosine / urine
Substances
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vanillactic acid
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Tyrosine
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Levodopa
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Hydroxyindoleacetic Acid
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5-Hydroxytryptophan
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Dopa Decarboxylase
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Aromatic-L-Amino-Acid Decarboxylases
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3-methoxytyrosine
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Homovanillic Acid