%0 Journal Article
%A Batllori, Marta
%A Molero-Luis, Marta
%A Arrabal, Luisa
%A Heras, Javier de Las
%A Fernandez-Ramos, Joaquin-Alejandro
%A Gutierrez-Solana, Luis Gonzalez
%A Ibañez-Mico, Salvador
%A Domingo, Rosario
%A Campistol, Jaume
%A Ormazabal, Aida
%A Sedel, Frederic
%A Opladen, Thomas
%A Zouvelou, Basiliki
%A Pons, Roser
%A Garcia-Cazorla, Angels
%A Lopez-Laso, Eduardo
%A Artuch, Rafael
%T Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
%D 2017
%U http://hdl.handle.net/10668/11779
%X Melatonin is synthesized from serotonin and it is excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary sulphatoxymelatonin as a biomarker of brain serotonin status in a cohort of patients with mutations in genes related to serotonin biosynthesis. We analized urinary sulphatoxymelatonin from 65 healthy subjects and from 28 patients with genetic defects. A total of 18 patients were studied: 14 with autosomal dominant and recessive guanosine triphosphate cyclohydrolase-I deficiency; 3 with sepiapterin reductase deficiency; and 1 with aromatic L-amino acid decarboxylase deficiency. Further 11 patients were studied after receiving serotoninergic treatment (serotonin precursors, monoamine oxidase inhibitors, selective serotonin re-uptake inhibitors): 5 with aromatic L-amino acid decarboxylase deficiency; 1 with sepiapterin reductase deficiency; 3 with dihydropteridine reductase deficiency; and 2 with 6-pyruvoyltetrahydropterin synthase deficiency. Among the patients without therapy, 6 presented low urinary sulphatoxymelatonin values, while most of the patients with guanosine triphosphate cyclohydrolase-I deficiency showed normal values. 5 of 11 patients under treatment presented low urine sulphatoxymelatonin values. Thus, decreased excretion of sulphatoxymelatonin is frequently observed in cases with severe genetic disorders affecting serotonin biosynthesis. In conclusion, sulphatoxymelatonin can be a good biomarker to estimate serotonin status in the brain, especially for treatment monitoring purposes.
%K Metabolism, inborn errors
%K Middle aged
%K Reference values
%K Serotonin
%K Young adult
%~