Abnormal galactoside excretion in urine of a patient with early myoclonic epileptic encephalopathy |
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| Authors: | J C Michalski S Bouquelet J Montreuil G Strecker O Dulac A Munnich |
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| Affiliation: | 1. Institute of Catalysis and Surface Chemistry, Polish Academy of Sciences, ul. Niezapominajek 8, 30-239 Cracow, Poland;2. Department of Theoretical Chemistry, Faculty of Chemistry, UMCS, pl. M. Curie-Sklodowskiej 3, 20-031 Lublin, Poland;3. Department of Biopharmacy, Faculty of Pharmacy, Medical University of Lublin, W. Chodzki Str., 4a, 20-093 Lublin, Poland |
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| Abstract: | An abnormal carbohydrate pattern was found in urine of a patient with early myoclonic epileptic encephalopathy. Three major oligosaccharides have been isolated from the urine; structural studies including sugar analyses, methylation procedure and enzymatic hydrolysis allow us to propose the following structures: beta-Gal-(1 leads to 3)-Gal beta-Gal-(1 leads to 3)-beta-Gal-(1 leads to 3)-Glc beta-Gal-(1 leads to 3)-beta-Gal-(1 leads to 3)-Gal Such oligosaccharide structures have not previously been described in any biological fluid. The origin of these compounds, and the possibility of a specific metabolic defect are discussed. |
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