title: Abnormal galactoside excretion in urine of a patient with early myoclonic epileptic encephalopathy.
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.
mesh_terms: D055598:Chemical Phenomena; D002621:Chemistry; D002850:Chromatography, Gel; D002855:Chromatography, Thin Layer; D004831:Epilepsies, Myoclonic / Q000652:urine*; D005697:Galactosides / Q000652:urine*; D008401:Gas Chromatography-Mass Spectrometry; D006027:Glycosides / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D009844:Oligosaccharides / Q000302:isolation & purification*; D013997:Time Factors
chemical_list: D005697:Galactosides; D006027:Glycosides; D009844:Oligosaccharides