title: Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.
abstract: 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-beta-hydroxylase are candidate inborn errors for neurotransmitter metabolites screening. This investigation has to be considered in any child with motor retardation and extrapyramidal signs.
authors.affiliation: University Hospital Nijmegen, Institute of Neurology, The Netherlands.
authors.forename: K J
authors.initials: KJ
authors.lastname: Lamers
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D001142:Aromatic-L-Amino-Acid Decarboxylases / Q000172:deficiency; D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency; D002395:Catecholamines / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004296:Dopa Decarboxylase / Q000378:metabolism; D006719:Homovanillic Acid / Q000378:metabolism; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000201:enzymology; D008734:Methoxyhydroxyphenylglycol / Q000378:metabolism; D012701:Serotonin / Q000378:metabolism*; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency
chemical_list: D002395:Catecholamines; D001708:Biopterins; D012701:Serotonin; D008734:Methoxyhydroxyphenylglycol; D006897:Hydroxyindoleacetic Acid; D014446:Tyrosine 3-Monooxygenase; D004296:Dopa Decarboxylase; D001142:Aromatic-L-Amino-Acid Decarboxylases; C003402:sapropterin; D006719:Homovanillic Acid