Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.2.1.23 (beta-galactosidase)
14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Skin and conjunctival biopsy specimens from fourteen patients with neuronal storage diseases were investigated using an electron microscope. The diseases were Tay-Sachs disease, ceroid-lipofuscinosis (Jansky-Bielschowsky type), Niemann-Pick disease (type B), highly suspected adrenoleukodystrophy, I-cell disease, mucolipidosis of the beta-galactosidase deficient type, Hurler disease, Hunter disease and Morquio disease. This examination provided valuable diagnostic information on some neuronal storage diseases but not on Morquio disease or highly suspected adrenoleukodystrophy. False negative results may sometimes occur using this examination method. However, this examination suggests the usefulness of skin and conjunctival biopsy specimens as a diagnostic tool in some neuronal storage diseases.
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PMID:Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases. 23 94

The apparent low level of synthetic substrate beta-D-galactosidase activity in liver from patients with the Hurler-Hunter syndrome is caused by the inhibitory effect of accumulated glycosaminoglycans. We have demonstrated complete inhibition of GM1 ganglioside beta-galactosidase activity in vitro by both heparan sulfate and dermatan sulfate, but the effect on lactosylceramide and galactosylceramide hydrolysis was less marked. In contrast, lysosomal neuraminidase activity in vitro was enhanced by the addition of glycosaminoglycans. These observations are discussed in relationship to the observed storage pattern of glycosphingolipids in liver from patients with mucopolysaccharidoses.
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PMID:The effect of glycosaminoglycans on the in vitro activity of human skin fibroblast glycosphingolipid beta-galactosidases and neuraminidases. 40 73

Alpha-L-Iduronidase activity and beta-galactosidase activity were determined in mixed leukocyte preparations in 10 families in which the Hurler syndrome had occurred. Affected patients, heterozygotes, and normal subjects were clearly distinguished by alpha-L-iduronidase activity alone. Patients had 0-3%, obligate heterozygotes 19-60%, and normal subjects 83-121% of the mean normal activity. There was no overlap between heterozygotes and normal subjects. Although the mean alpha-L-iduronidase to beta-galactosidase ratio was significantly lowered in heterozygotes when compared with that of normal subjects, appreciable overlap was noted between the two groups.
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PMID:Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection. 81 11

Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.
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PMID:Corneal clouding in GM1-generalized gangliosidosis. 82 60

A female child of healthy, unrelated parents presented at 12 months of age with a history of moderately severe developmental delay, macrocephaly, dysmorphic facies, hypotonia, hepatosplenomegaly, mild generalized dysostosis multiplex, mucopolysacchariduria (dermatan and heparan sulfates), and Alder-Reilly bodies in peripheral blood leukocytes. Iduronate sulfatase activity in plasma was markedly depressed: 0.11 units/ml/h (normal, 1.75 +/- 0.56, N = 6). Analyses of arylsulfatases A, B, and C, heparan N-sulfatase, alpha-mannosidase, beta-mannosidase, beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and alpha-fucosidase activities in plasma, leukocytes, and/or cultured skin fibroblasts were all normal. Urinary sulfatide excretion was also within normal limits. Karyotypes of peripheral blood leukocytes and cultured skin fibroblasts were normal. Serum iduronate sulfatase activities in the parents were in the normal range (father, 1.63 units/ml/h; mother, 1.25 units/ml/h). The results of analyses of restriction fragment length polymorphisms (RFLP) of DNA from cultured skin fibroblasts with the use of probes for loci extending from Xpter to Xq28 showed X chromosome heterozygosity and confirmed the paternal origin of one of the X chromosomes. Studies on sulfur-35 uptake in mixed fibroblast cultures showed cross-correction of [35S]-glycosaminoglycan accumulation between cells from the patient and normal cells or cells from a patient with Hurler disease; however, there was no cross-correction between cells from the patient and those from boys affected with classical Hunter disease. This represents only the second confirmed case of Hunter disease reported in a karyotypically normal girl.
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PMID:Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. 211 88

We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. Foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes.
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PMID:Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. 214 53

Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron micrographs isozymes of galactosidases, and fetal skin sulfate turnover. In this case the amnio tic fluid contained 78% dermatan and heparan sulfates. The fetal liver contained 28.8% dermatan sulfate and 62.4% heparan sulfate among the soluble glycosaminoglycans. Some translucent lysosomal vacuoles with osmiophilic inclusions were evident in liver but not in central nervous system. Isozymes A and B of alpha-galactosidase and beta-galactosidase- B were very low in fetal tissues compared with age-matched controls. 5 other lysosomal enzymes were slightly elevated upon assay with fluorescent substrates. Sulfate turnover studies in cultured fetal skin cells showed excessive accumulation but enhanced release rates in presence of pooled normal human serum (Hurler corrective factor). When these studies were done, the enzyme defect in Hurler's syndrome was known to be alpha-L-iduronidase, but no substrate was available commercially.
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PMID:Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus. 426 90

A marked deficiency of a specific thermolabile beta-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).
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PMID:Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme. 497 65

The sugars present in hydrolyzed extracts of human liver and brain were analyzed by gasliquid chromatography after conversion to their alditol acetates. The samples analyzed were obtained from control subjects, patients with gargoylism, and patients with a few other kinds of storage disorders. Accumulation of galactose was demonstrated in the liver and the brain of two patients with gargoylism, and in the liver samples, high levels of mannose were found too. We also studied the hydrolysis of a number of galactosides by homogenates from different tissues in the control subjects and in the patients. Separation methods and kinetic studies demonstrated the presence in normal human tissues of two different beta-galactosidases, which we call enzyme A and enzyme B, respectively. Enzyme A hydrolyzed all the beta-galactosides tested. Enzyme B hydrolyzed the synthetic substrates tested (4-methylumbelliferyl-, p-nitrophenyl-, o-nitrophenyl-, and phenyl-beta-galactoside) but not the natural substrates tested (ceramide-beta-galactoside, ceramide lactoside, transferrin glycopeptide, and keratan sulfate). Enzyme B also exerted beta-glucosidase activity. In various tissues from patients with gargoylism, deficiency of beta-galactosidase A could be demonstrated. It is suggested that the high level of galactose found in the hydrolyzed extracts of tissues from gargoylism patients is due to storage of galactose-rich glycosaminoglycans and glycopeptides, and that this storage is a result of the deficiency of beta-galactosidase A. The high level of mannose in the liver from gargoylism patients seems to indicate storage of glycopeptide, adding a new group of substances to those known to be stored in gargoylism.
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PMID:Gargoylism: hydrolysis of beta-galactosides and tissure accumulation of galactose- and mannose-containing compounds. 498 60

Assay conditions were studied for eight lysosomal enzymes in lymphoblastoid cell lines transformed by Epstein-Barr virus. The transformed lymphoblastoid cells retained all eight enzyme activities, though the levels sometimes differed from those in the peripheral lymphocytes or granulocytes. The levels of these eight lysosomal enzymes were measured in lymphoblastoid cells from 11 patients with hereditary lysosomal storage diseases--GMI-gangliosidosis, a variant of beta-galactosidase deficiency (sialidase deficiency with a partial beta-galactosidase deficiency), Tay-Sachs disease, Gaucher disease, Hurler syndrome, Scheie syndrome and I-cell disease--and from 20 of their obligate heterozygotes. No activity of enzymes that were deficient in the respective disease, except I-cell disease, was detected in the lymphoblastoid cells from the patient. In I-cell disease, the cells showed lower levels of some enzyme activities. beta-D-Galactosidase activity from heterozygotes of the patient with GMI-gangliosidosis and alpha-L-iduronidase activity from heterozygotes of the patient with Hurler syndrome were in carrier range. On sephadex G-150 gel filtration, beta-D-galactosidase in control material gave two peaks (I and II). In GMI-gangliosidosis, peak II was absent and peak I was markedly diminished. Peak II in the heterozygotes was smaller than that of control. On DEAE cellulose column chromatography of hexosaminidase, two major isoenzymes (hexosaminidase A and B) were detected in control. However, hexosaminidase A was not detected in Tay-Sachs disease, and the ratios of hexosaminidase (Hex) A/Hex B in the parents were lower than those in control.
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PMID:Lymphoblastoid cell lines, transformed by Epstein-Barr virus, in the enzymatic study of hereditary lysosomal storage diseases. 627 59


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