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Generalized N ‐Acetylneuraminic Acid Storage Disease: Quantitation and Identification of the Monosaccharide Accumulating in Brain and Other Tissues
Author(s) -
Hancock Larry W.,
Thaler M. M.,
Horwitz Allen L.,
Dawson Glyn
Publication year - 1982
Publication title -
journal of neurochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.75
H-Index - 229
eISSN - 1471-4159
pISSN - 0022-3042
DOI - 10.1111/j.1471-4159.1982.tb08701.x
Subject(s) - monosaccharide , identification (biology) , n acetylneuraminic acid , neuraminic acid , chemistry , brain chemistry , biochemistry , chromatography , biology , sialic acid , endocrinology , botany
Brain and other tissues from a patient with extensive neonatal as‐cites 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 μmol/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.