title: N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.
abstract: The levels of the main glycoprotein-derived storage compound, N-acetylglucosamine-asparagine, in various post mortem tissues of three adult patients with inherited deficiency of lysosomal 1-aspartamido-beta-N-acetylglucosamine amidohydrolase (aspartylglycosaminuria) were measured by gas-liquid chromatography. All aspartylglycosaminuria tissues studied contained significant amounts of N-acetylglucosamine-asparagine, whereas none of the corresponding control tissues contained detectable amounts of this compound. High levels of N-acetylglucosamine-asparagine were found in the liver (3.65 mg/g wet weight), spleen (2.24) and thyroid (2.18), and lower levels in the kidney (0.89), brain (0.53), spinal cord (0.32), sciatic nerve (0.34) and skeletal muscle (0.16). The results show that N-acetylglucosamine-asparagine accumulates chiefly in tissues with important functions in glycoprotein metabolism and/or high endocytic activity. Correlation of the results to the clinical manifestations of aspartylglycosaminuria did not reveal a direct relationship between the amount of N-acetylglucosamine-asparagine stored and the degree of organ dysfunction.
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000378:metabolism* / Q000652:urine; D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D001216:Asparagine / Q000378:metabolism*; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000652:urine; D054880:Aspartylglucosaminuria; D004705:Endocytosis; D005260:Female; D005944:Glucosamine / Q000031:analogs & derivatives*; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D014018:Tissue Distribution
chemical_list: D006023:Glycoproteins; C000009:N-acetylglucosaminylasparagine; D001224:Aspartic Acid; D001216:Asparagine; D000581:Amidohydrolases; D005944:Glucosamine; D000117:Acetylglucosamine