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)

In Gaucher disease there is a deficiency of the lysosomal enzyme, cerebroside-beta-glucosidase, as a result of which cerebroside (glucosylcereamide) accumulates in various organs. In northern Sweden 22 patients with a juvenile form of this disease have been identified. In one such patient, a girl of 10 years, we have attempted enzyme replacement by renal transplantation. After this operation the hepatic glucocerebroside content fell significantly. In another child afflicted with Gaucher disease in whom splenectomy was performed for severe splenomegaly and hypersplenism there was a progressive increase in the level of this lipid. These findings suggest that enzyme replacement was achieved by transplantation of a normal organ.
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PMID:Attempt at enzyme replacement in Gaucher disease by renal transplantation. 38 Feb 59

The authors describe a case of an adult patient having Gaucher's disease, who had hepatosplenomegaly and pancytopenia. The diagnosis was established by the low level of leukocyte beta-glucosidase and by histology of bone marrow, liver and spleen. The patient had no bone pain, but MRI described characteristic lesions of the femur. Serum acid phosphatase was characteristically elevated. The hypersplenism was reduced after splenectomy. The patient has a daughter with central nervous system dysfunction. Her chromosome examination is normal, but she has lower leukocyte beta-glucosidase activity too. She may have a Gaucher's disease of type II, the acute neuropathic form.
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PMID:[A case of adult Gaucher disease]. 140 99

A 50-year-old female patient was admitted because of an enormously enlarged spleen and thrombocytopenia. Ultrasonography and magnetic resonance imaging revealed multiple space-occupying lesions in the spleen. She was diagnosed as having Gaucher's disease based on the low level of beta-glucosidase activity in leukocytes and Gaucher's cells present in bone marrow aspirate. Severe hypersplenism necessitated splenectomy. Pathological studies of the excised spleen, including ultrastructural examinations, demonstrated that multiple space-occupying lesions in the spleen were composed of typical Gaucher cells.
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PMID:Multiple space-occupying lesions of the spleen in a case of Gaucher's disease. 163 69

We present the case of a 7-month-old girl with Gaucher disease who required anesthetic care during laryngoscopy, bronchoscopy, and central line placement. Gaucher disease is a familial disorder of lipid catabolism with autosomal recessive inheritance. Due to the defective function of the enzyme glucosylceramide beta-glucosidase, glycosphingolipids accumulate, leading to end-organ dysfunction. Three clinical variants of the disease, which differ in age of onset, degree of central nervous system (CNS) involvement, and frequency in the population, have been described. Of concern to the anesthesiologist is the occurrence of significant CNS dysfunction in types II and III, with seizures, gastroesophageal reflux, and chronic aspiration. Bulbar involvement and infiltration of the upper airway with glycolipids may lead to upper airway obstruction. Additionally, hepatosplenomegaly, present in all three variants, may lead to hypersplenism with thrombocytopenia and anemia. Preoperative identification of the associated end-organ dysfunction will allow the safe provision of anesthetic care for these children.
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PMID:Anesthetic considerations in the child with Gaucher disease. 809 1