Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.23 (beta-galactosidase)
 14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosaccharides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.
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PMID:[Gangliosidosis GM1--type 1. Anatomo-clinical study of a case]. 311 51

GM1 gangliosidosis in the infantile form is a rapidly fatal storage disease produced by deficiency of acid beta-galactosidase. Ultrastructural studies of the eyes from two fetuses affected with GM1 gangliosidosis were performed in an effort to assess tissue-specific distribution of storage inclusions in the different ocular components derived from neuroectoderm, surface ectoderm, and mesoderm. Two major configurations of inclusions were observed: electronlucent vacuoles and pleiomorphic osmiophilic membranes. Although the latter changes mainly affected the retinal neurons, they were occasionally found in cells of epithelial and mesenchymal origin. The findings indicate that the lysosomal storage process in GM1 gangliosidosis, type 1, has a wide morphologic spectrum that is already present in the early period of fetal life.
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PMID:Manifestation of infantile GM1 gangliosidosis in the fetal eye. An electron microscopic study. 312 87

Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease-causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil.
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PMID:Population analysis of the GLB1 gene in South Brazil. 2163 42