Batllori, MartaMolero-Luis, MartaArrabal, LuisaHeras, Javier de LasFernandez-Ramos, Joaquin-AlejandroGutierrez-Solana, Luis GonzalezIbañez-Mico, SalvadorDomingo, RosarioCampistol, JaumeOrmazabal, AidaSedel, FredericOpladen, ThomasZouvelou, BasilikiPons, RoserGarcia-Cazorla, AngelsLopez-Laso, EduardoArtuch, Rafael2023-01-252023-01-252017-10-09Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, et al. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. Sci Rep. 2017 Nov 7;7(1):14675http://hdl.handle.net/10668/11779Melatonin 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.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Metabolism, inborn errorsMiddle agedReference valuesSerotoninYoung adultAdolescentAdultBiogenic aminesBiomarkersChildChild, preschoolFemaleHumansMaleMelatoninMetabolic networks and pathwaysresearch article29116116open accessAminas biogénicasBiomarcadoresMelatoninaNiñoPreescolarRedes y vías metabólicas10.1038/s41598-017-15063-82045-2322PMC5676966https://www.nature.com/articles/s41598-017-15063-8.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676966/pdf