A case of GMl-gangliosidosis with high activity of hepatic neutral fi-galactosidase is reported. Gl~ii-fi-galactosidase was deficient. Ganglioside G5I 1 was accumulated in the liver of this patient. Clinically this Japanese girl started convulsive seizures at 5 months of age, had hepatomegaly, and m
GM1-gangliosidosis: A molecular abnormality of acid β-galactosidase in fibroblasts
✍ Scribed by T. Furuya; Y. Suzuki
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 239 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0141-8955
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Alterations in GLB1, the gene coding for acid b-D-galactosidase (b-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. While most MBD patients carry a common
G(M1)-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase (GLB1). The GLB1 gene gives rise to the GLB1 lysosomal enzyme and to the elastin binding protein (EBP), involved in elastic fiber deposition. GLB1 forms a complex with protective protein cathepsin A (PP