title: Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.
abstract: Brain and other tissues from a patient with extensive neonatal ascites and clinical symptoms suggestive of a severe neurovisceral storage disorder were examined following autopsy for the accumulation of oligosaccharides. This carbohydrate analysis revealed the presence of large amounts (3--21) mumol/g fresh weight) of sialic acid in brain, liver, and kidney tissue as the major abnormality. Exhaustive characterization of the accumulating material by gel filtration, gas-liquid chromatography, thin-layer chromatography, and GLC-mass spectrometry positively identified the saccharide as free N-acetylneuraminic acid. Based on the accumulation of only free N-acetylneuraminic acid in the tissue of this patient, and normal activities of lysosomal enzymes involved in the catabolism of cellular glycoproteins, this storage disorder appears to result from a previously unreported defect in glycoconjugate metabolism.
mesh_terms: D001921:Brain / Q000378:metabolism*; D001923:Brain Chemistry; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002849:Chromatography, Gas; D002855:Chromatography, Thin Layer; D008401:Gas Chromatography-Mass Spectrometry; D006017:Glycolipids / Q000032:analysis; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007668:Kidney / Q000032:analysis; D008099:Liver / Q000032:analysis; D008247:Lysosomes / Q000201:enzymology; D012794:Sialic Acids / Q000378:metabolism*; D014018:Tissue Distribution
chemical_list: D006017:Glycolipids; D012794:Sialic Acids; D006867:Hydrolases