title: Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
abstract: Sepiapterin reductase deficiency (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and intellectual disability. The diagnostic marker for this rare disease is increased sepiapterin and biopterin in CSF. Through a new analytic methodology we demonstrated accumulation of sepiapterin in urine of four SRD patients several times greater than that found in healthy controls and carriers, regardless of age or treatment. Our findings suggest a new interpretation of current theories of peripheral pterin metabolism and provide a new noninvasive diagnostic tool for children with early onset cryptogenetic developmental delay and/or movement disorder.
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address: claudia.carducci@uniroma1.it.
authors.forename: Claudia
authors.initials: C
authors.lastname: Carducci
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address: silviasantagata@hotmail.com.
authors.forename: Silvia
authors.initials: S
authors.lastname: Santagata
authors.affiliation: Department of Neurosciences and Pediatrics, University of CA San Diego and Rady Children's Hospital, San Diego, USA; Department of Pediatrics, University of CA San Diego and Rady Children's Hospital, San Diego, USA. Electronic address: jrfriedman@rchsd.org.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Friedman
authors.affiliation: Metabolic and Muscular Unit, A. Meyer Children's Hospital, Florence, Italy. Electronic address: e.pasquini@meyer.it.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address: carla.carducci@uniroma1.it.
authors.forename: Carla
authors.initials: C
authors.lastname: Carducci
authors.affiliation: Department of Experimental Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy. Electronic address: manuelatolve@gmail.com.
authors.forename: Manuela
authors.initials: M
authors.lastname: Tolve
authors.affiliation: Department of Molecular Medicine, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome Italy. Electronic address: antonio.angeloni@uniroma1.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Angeloni
authors.affiliation: Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
mesh_terms: D015415:Biomarkers / Q000652:urine; D004421:Dystonia / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D011379:Prognosis; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000652:urine; D011622:Pterins / Q000652:urine*
chemical_list: D015415:Biomarkers; D011622:Pterins; C016727:sepiapterin
keywords: Sepiapterin; Sepiapterin reductase deficiency; Tetrahydrobiopterin biosynthesis