Aspartylglucosaminuria II: biochemical studies on brain,liver, kidney and spleen

Summary Brain, liver, kidney and spleen biopsy and autopsy specimens were taken from patients with aspartylglucosaminuria for biochemical investigations. Total cholesterol values for brain and liver were normal as were also the values for N-acetylneuraminic acid in brain. Lipid phosphate was slightly increased both in the brain and liver. The thin-layer chromatographic patterns of brain gangliosides and phospholipids were normal.In the group of fourteen different lysosomal enzymes the activity of N-aspartyl--glucosaminidase was markedly decreased in the brain, liver and spleen but not in the kidney. The activities of a number of other enzymes, especially those of N-acetyl--d-glucosaminidase and N-acetyl--d-galactosaminidase were high in the same three tissues and again normal in the kidney. No consistent abnormalities were recorded in the groups of three microsomal and three other enzymes.The biochemical findings seem to be characteristic to aspartylglucosaminuria and delineate it as a special disease entity.