GM1 Gangliosidosis Type II
| Autor: | Robert Vlietinck, J.A. Kint, G. Dacremont, C. Hooft |
|---|---|
| Rok vydání: | 1970 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Erythrocytes Adolescent Biopsy Gangliosidosis Lipidoses Clinical onset Heterozygote Detection Gangliosides Internal medicine Leukocytes medicine Humans Amaurotic idiocy Ganglioside business.industry GM1 Gangliosidosis Tay-Sachs disease Infant Newborn Brain Infant Middle Aged Lipid Metabolism medicine.disease Galactosidases Endocrinology Liver Neurology Carbohydrate Metabolism Female Chromatography Thin Layer Neurology (clinical) business Metabolism Inborn Errors Visceromegaly |
| Zdroj: | European Neurology. 4:1-21 |
| ISSN: | 1421-9913 0014-3022 |
| DOI: | 10.1159/000114034 |
| Popis: | A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly nor skeletal X-ray changes. There is no ganglioside accumulation in the liver. These observations permit a clear distinction from the generalized GM1 gangliosidosis and agree with the division in 2 types as proposed by Derry. There was no β-galactosidase activity in the liver and the leukocytes of the patients but in the brain this enzyme showed an only slightly reduced activity. The leukocytes of the parents and of 4 of their 10 brothers and sisters showed a marked reduction of the β-galactosidase activity, suggesting an heterozygous state. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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