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)

Two sisters are described with demonstrable splenomegaly already from infancy and, after the age of 2--4 years, signs of slowly progressive encephalophy, vacuolated lymphocytes in the peripheral blood, and peculiar foam cells in the bone marrow aspirates. The died at 7 3/4 and 6 1/2 years. Widely spread in the brain, the nerve cell bodies were found to show extensive ballooning. It was most striking in the brain stem and spinal cord, while cerebellar structures were remarkably well preserved. The cytoplasm of the ballooned nerve cells was filled with finely granular storage material stainable as a readily soluble glycolipid. The spleen, liver and intestinal wall contained numerous foamy PAS-positive macrophages. Chemical assays showed a ten-fold increase of lactosylceramide and a modest one of minor gangliosides brain cortex. No accumulation sphingomyelin could be revealed, and the sphingomyelinase activity was found to be normal. The ganglioside GM1 beta-galactosidase activity of leucocytes was reduced to 20--25% of normal, which indicated a disturbance of the glycosaminoglycan metabolism. The tissue content of glycosaminoglycans was, however, normal, but an accumulation of lactose was demonstrated in the spleen. It is postulated that the primary enzymic defect is a disturbance of a lysosomal beta-galactosidase with a substrate specificity for lactose and other oligosaccharides with a terminal beta-galactosidic linkage.
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PMID:Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis? 58 Mar 8

The case of a 4 year-old boy presenting with dysmorphic facies, hepatomegaly, splenomegaly, growth and psychomotor retardation is reported. Radiological pattern suggested a storage disease. Bone marrow differential cell count showed numerous storage cells with vacuolated lymphocytes. Enzymatic studies showed decreased beta-galactosidase and neuraminidase levels, leading to the diagnosis of galactosialidosis. This is the first Tunisian case reported, which differs from the other cases published by the presence of a Kayser-Fleischer ring.
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PMID:[Galactosialidosis with Kayser-Fleischer's ring]. 161 Feb 76

A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while alpha-galactosidase and alpha-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.
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PMID:beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 643 42

BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited. In 2013, a laparoscopic cholecystectomy for symptomatic gallstones was performed. The patient's CESD had caused a Child-Pugh A/B and Lab-MELD 14 cirrhosis with esophageal varices (grade III), a solitary fundal varix, as well as hepatosplenomegaly with thrombocytopenia. In 2016, the patient was admitted with compensated cirrhosis and splenomegaly for a ligature of esophageal varices which was complicated by vomiting of blood followed by severe coagulopathy and hemorrhagic shock. The dried blood test showed reduced acid lipase (0.03 nmol/spot*3 hours; reference range 0.2-2) and beta-galactosidase (0.08 nmol/spot*21 hours; reference range 0.5-3.2). Then 15 days after the esophageal varices bleed, the patient died due to multiorgan failure as a sequelae of advanced liver disease. CONCLUSIONS LAL-D should be included in the differential diagnosis of lipid metabolism disorder, hepatomegaly, and non-alcoholic fatty liver disease with fibrosis or cirrhosis. Causal treatment with sebelipase alfa should be introduced even in patients who have LAL-D and many years of clinically mild symptoms of this disease to prevent the serious sequelae of cirrhosis or cardiovascular complications.
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PMID:Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms. 2977 83