Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.21 (beta-glucosidase)
 3,280 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sphingolipidoses in infancy and adulthood and associated metabolic disturbances are caused by a recessively inherited, circumscribed lysosomal enzyme deficiency in the catabolism of various structural tissue substances. After presenting detailed methods for the quantitative assay of activities of lysosomal hydrolytic enzymes in leukocytes, serum , fibroblasts, urine and organ tissue with the aid of synthetic chromogenic and fluorescent substrates the signigicance of these methods for clinical diagnosis, for the detection of homozygote persons before developing clinical symptoms (preclinical diagnosis), for the preventive prenatal diagnosis and forthe detection of heterozygote carriers is described for the following diseases: Deficiency of hexosaminidase A and B, deficiency of beta-glucosidase, deficiency or arylsulfatase A, deficiency of alpha-galactosidase, deficiency of alpha-glucosidase.
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PMID:[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]. 41 9

Maternal protein deficiency imposed on rats a month prior to conception, and during gestation and lactation, resulted in a significant cell loss in cerebrum, cerebellum, brain stem and spinal cord of pups at weaning. The cerebellum was the most affected central nervous system (CNS) region; it contained only 25% of the normal cell number. Undernourished pups were also found to have a lower concentration of total gangliosides in cerebrum as compared to that of controls. However, the total ganglioside concentration was unaffected in the cerebellum, brain stem and spinal cord by maternal undernutrition. In all regions, undernutrition caused significant changes in the proportions of individual gangliosides; these alterations were region-specific. Sialidase, beta-galactosidase, beta-glucosidase, and beta-hexosaminidase, which are involved in the catabolism of gangliosides, showed higher activities in all the regions of undernourished pups, suggesting that these enzymes may play a role in maintaining the porportions of various ganglioside fractions.
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PMID:Maternal protein deficiency in rat: effects on central nervous system gangliosides and their catabolizing enzymes in the offspring. 194 99

Lysosomal storage disease is one of the inborn errors of metabolism caused by a deficiency of lysosomal acid hydrolase activity. We describe here the details of screening methods for the diagnosis of this disorder. It is definitely important to perform both enzyme assay of acid hydrolases and the detection of accumulated materials in patient's tissues. Leukocytes (lymphocytes), serum or plasma, and cultured skin fibroblasts are commonly used as the enzyme source for the assay. Although most lysosomal storage diseases can be diagnosed using leukocytes as the enzyme source, enzymatic activities of beta-glucosidase and sialidase in leukocytes are sometimes normal even in patients. At present, the most reliable enzyme source is considered to be cultured skin fibroblasts. Nevertheless, we should remind that we cannot detect a deficiency of galactocerebroside beta-galactosidase activity even using fibroblasts, if we use synthetic substrate. Natural substrates should be employed for the correct diagnosis and for the study of the nature of patient's enzyme. Deficiency of the enzymatic activity in patients should be confirmed by the demonstration of accumulated materials due to the enzyme defect in patient's tissues and urine. The accumulation of mucopolysaccharides and oligosaccharides in urine is obvious in patients with mucopolysaccharidoses and mucolipidoses, respectively. In case of sphingolipidoses, rectal biopsy specimen and blood could be a target of the investigation. In final, the choice of these screening methods should be made solely based on the detailed clinical manifestation of patients.
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PMID:[Screening methods for the diagnosis of lysosomal storage disease]. 857 38

Gaucher disease, a condition transmitted by autosomal recessive inheritance, results from a genetic defect in beta-glucosidase, an enzyme which degrades sphingolipids. Deficiency in beta-glucosidase leads to accumulation of its substrate, glycosylceramide, in macrophages and, in the more severe cases, in neurons. Clinically, splenomegaly, hepatomegaly, bone destruction, cytopenia, and in some cases, central neurological lesions develop. Three phenotypes have been described according to the absence (type 1) or presence of neurological involvement (type 2: severe, type 3: intermediate severity). The disease occurs in patients of all ethnic origins but type 1 is particularly well known in Ashkenese Jews and type 3 is found in the Swedish province of Norrbottnie. About forty mutations of the beta-glucosidase gene have been identified. Four account for 80% of the known mutations (1226G, 1448C, 84GG, IVS2+1). Residual enzyme activity of mutant beta-glucosidase explains some of the phenotypic variations. The phenotype resulting from the 1226G mutation has sufficient enzyme activity for degradation of gangliosides in the brain, explaining the absence of neurological involvement in patients with this allele. Treatment is based on enzyme supplemention: blood parameters return to normal and the volume of the spleen and liver are greatly reduced after 6 months. In infants with very severe disease, bone marrow graft may be used.
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PMID:[Gaucher disease]. 874 84