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  • Title: [Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis].
    Author: Mammelle JC, Vanier MT, Baraton G, Gilly J, Carrier H, Guichard Y, Richard A, Gilly R.
    Journal: Arch Fr Pediatr; 1975 Dec; 32(10):925-39. PubMed ID: 821451.
    Abstract:
    Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.
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