Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.
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.
Lamers
K J
KJ
University Hospital Nijmegen, Institute of Neurology, The Netherlands.
Wevers
R A
RA
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
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