title: beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
abstract: In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, beta-ureidopropionase (UP) deficiency, are reported. 1D (1)H-NMR experiments were performed using a patient's urine. 3-Ureidopropionic acid was observed in elevated concentrations in the urine spectrum. A 1D (1)H-(1)H total correlation spectroscopy (TOCSY) and two heteronuclear 2D NMR techniques (heteronuclear multiple bond correlation (HMBC) and heteronuclear single-quantum correlation (HSQC)) were used to identify the molecular structure of the compound that caused an unknown doublet resonance at 1.13 ppm. Combining the information from the various NMR spectra, this resonance could be assigned to 3-ureidoisobutyric acid. These observations suggested a deficiency of UP. With 1D (1)H-NMR spectroscopy, UP deficiency can be easily diagnosed. The (1)H-NMR spectrum can also be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, Nijmegen, The Netherlands.
authors.forename: S H
authors.initials: SH
authors.lastname: Moolenaar
authors.forename: G
authors.initials: G
authors.lastname: Göhlich-Ratmann
authors.forename: U F
authors.initials: UF
authors.lastname: Engelke
authors.forename: M
authors.initials: M
authors.lastname: Spraul
authors.forename: E
authors.initials: E
authors.lastname: Humpfer
authors.forename: P
authors.initials: P
authors.lastname: Dvortsak
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: C
authors.initials: C
authors.lastname: Bräutigam
authors.forename: A B
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: A
authors.initials: A
authors.lastname: van Gennip
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000652:urine
chemical_list: D000581:Amidohydrolases; C021590:beta-ureidopropionase