2-Acetamidoglucal,a new metabolite isolated from the urine of a patient with sialuria |
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| Authors: | Johannis P Kamerling Gérard Strecker Jean-Pierre Farriaux Lambertus Dorland Johan Haverkamp Johannes FG Vliegenthart |
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| Institution: | 1. Organisch Chemisch Laboratorium der Rijksuniversiteit, Utrecht The Netherlands;2. Laboratoire de Chimie Biologique, Université des Sciences et Techniques de Lille I, Villeneuve d''Ascq, France;3. Centre Hospitalier Régional de Lille, Service de Génétique et Maladies Héréditaires du Métabolisme de l''Enfant, Lille France |
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| Abstract: | A new metabolite, namely 2-acetamidoglucal, has been found in the urine of a patient with sialuria in addition to the metabolites N-acetylneuraminic acid, N-acetylmannosamine, N-acetylglucosamine and N-deoxy-2,3-dehydro-Nacetylneuraminic acid reported earlier. The structure has been identified by mass spectrometry and 360 MHz proton nuclear magnetic resonance spectroscopy and verified by synthesis. All accumulated compounds fit into the metabolic pathway for the biosynthesis of CMP-N-acetylneuraminic acid. Sialuria is discussed in terms of a failure of regulation of UDP-N-acetyl-glucosamine 2-epimerase. |
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| Keywords: | 2-Acetamidoglucal Sialuria Inborn error (Human urine) |
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