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Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholaminesUniversity Hospital Nijmegen, Institute of Neurology, Laboratory of Neurologie, PO Bos 9101, 6500 HB Nijmegen, The Netherlands
University Hospital Nijmegen, Institute of Neurology, Laboratory of Neurologie, PO Bos 9101, 6500 HB Nijmegen, The Netherlands This paper describes the relevance of measuring biogenic amine metabolites in cerebrospinal fluid in order to detect inborn errors affecting catecholamines and serotonin biosynthesis. Defects in tetrahydrobiopterin and a deficiency of aromatic L-amino acid decarboxylase, tyrosine hydroxylase or dopamine-b-hydroxylase are candidate inborn errors for neurotransmitter matabolites screening. This investigation has to be considered in any child with motor retardation and extrapyramidal signs.
Key Words: CSF catecholamines HVA L-Dopa decarboxylase tyrosine hydroxylase
Multiple Sclerosis, Vol. 4, No. 1,
37-38 (1998) |
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