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 uptake and catabolism of [3H-ceramide]-GM1 was followed in living fibroblasts from patient with different forms of beta-galactosidase deficiency. Gangliosides are identified according to the nomenclature of Svennerholm (1963). A total inability to metabolize the ingested substrate was found in infantile GM1-gangliosidosis whereas cells from an adult GM1-gangliosidosis variant showed a slower rate of degradation, compared with controls. Morquio B fibroblasts had a comparable catabolism of GM1 as controls. Fibroblasts from different types of galactosialidosis, a recessive disease associated with a coexistent beta-galactosidase/neuraminidase deficiency all showed degradation of ingested GM1. In view of the molecular defect in this disease, this catabolism must be due to the 10-20% of monomeric beta-galactosidase molecules present in the lysosomes. Unexpectedly, in these cells an impaired metabolism of GM3 was found. The same finding was observed when cells with an isolated neuraminidase deficiency (mucolipidosis I) were loaded with GM1. A hypothesis is presented to explain these results.
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PMID:Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency. 308 9

Further clinical heterogeneity of Morquio disease, mucopolysaccharidosis IV (MPS IV), is delineated by the observation of a 30-year-old man with unusually mild clinical manifestations. He is 156 cm tall, has comparatively mild skeletal abnormalities and fine corneal deposits. Keratosulfaturia is absent. N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase (E.C. 3.1.6.-) was markedly reduced in his fibroblasts. The residual enzyme activity exhibited a pH profile comparable to that of patients with the "classical" form of the disorder. From our observation and a review of the literature it is concluded that Morquio disease can be divided in several subgroups: besides the severe ("classical") type A there exist an intermediate and a mild form that are also caused by a GalNAc-6-S sulfatase deficiency. A late-onset variant of Morquio disease, which is due to a deficiency of beta-galactosidase, has been classified as type B. In addition, patients with mild manifestation of the disease and normal activities in fibroblasts of GalNAc-6-S sulfatase and beta-galactosidase have been observed (type C). The genetic nature of the broad clinical variability of Morquio disease is incompletely understood: it is partially caused by different enzyme defects. Other factors thought to influence the clinical expression include the pH profile of the residual enzyme activity and an additional neuraminidase defect.
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PMID:Heterogeneity of Morquio disease. 308 64

The clinical and biochemical findings in 3 siblings with Morquio's disease type B (mucopolysaccharidosis (MPS) IV B) are presented. Their phenotype is characterised by short trunk dwarfism with kyphoscoliosis and thoracic deformity. Radiographic findings include general platyspondyly, dysplasia of the pelvis and epiphyseal abnormalities. The patients are of normal intelligence. In the urine of all 3 affected children abnormal oligosaccharide excretion was found by thin-layer chromatography and in 1 of them keratosulphaturia was detected. The clinical diagnosis was confirmed biochemically by demonstration of a profound deficiency of beta-galactosidase activity in cultured fibroblasts. The clinical picture is compared with that of other cases in the literature and the possible molecular basis of the different phenotypes of beta-galactosidase deficiency (variants of monosialo-ganglioside-1 (GM1)-gangliosidosis, Morquio's disease type B) is discussed.
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PMID:Morquio's disease type B (beta-galactosidase deficiency) in three siblings. 312 Mar 23

A brother and sister with clinical and radiological features of Morquio disease, but with atypical mental regression, are described. Leucocyte and fibroblast beta-galactosidase activity was deficient in the siblings, while N-acetylgalactosamine 6-sulphate sulphatase and neuraminidase were normal. Study of the residual fibroblast beta-galactosidase activity towards 4-methylumbelliferyl and p-nitrophenyl beta-D-galactosides indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1-gangliosidosis. The patients have therefore been classified as having Morquio B disease with atypical mental regression rather than GM1-gangliosidosis variants with particularly severe bony abnormalities. The mutation was, however, distinct from that in Morquio B disease since residual activity towards the alternative artificial substrate 4-methylumbelliferyl-beta-D-fucoside was increased. The patients represent further examples of the heterogeneity that can result from mutation at the beta-galactosidase locus.
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PMID:Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). 312 Dec 19

Typical dental changes were present in all cases, although they were of variable degree. However, the tooth morphology would appear to be highly specific for MPS IV A, and is not found in MPS IV B (beta-galactosidase deficiency) or the recently delineated MPS IV C (enzyme defect unknown). Thus the dental changes have a very useful diagnostic potential in mild atypical cases of MPS IV A, although they may only be demonstrable radiologically in some such cases.
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PMID:Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings. 312 22

A rare case of mucopolysaccharidosis, i.e., Morquio's disease with spondyloepiphyseal dysplasia, corneal clouding, normal intelligence, and deficiency of beta-galactosidase activity is described.
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PMID:[Ophthalmologic and roentgenologic findings in a rare case of mucopolysaccharidosis 4 B]. 393 70

This communication reports the clinical and biochemical results in six patients: four with mucopolysaccharidosis, one with GM1 gangliosidosis (Morquio B) and one with I-cell disease, who were treated by amniotic tissue transplantation. The sole evident clinical result was the diminishing of corneal clouding in three cases. A slight increase of beta-galactosidase activity in one patient's plasma was observed. The time of improvement was about 2 months after the transplantation and was transitory.
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PMID:Amniotic tissue transplantation as a trial of treatment in some lysosomal storage diseases. 393 84

Two children presenting with a mild form of Morquio's syndrome are reported. Clinically, there was a characteristic brevity of the trunk and slit lamp examination showed discrete corneal opacities. On X-ray films, generalized plastyspondylia was moderate but it was associated with hypoplasia of the odontoid process. Acetabula were enlarged with coxa valga; obliquity of inferior radio-cubital extremity was associated with a sharp pattern of the proximal end of metacarpi. Epiphyseal cartilage chondrocytes also looked like those of Morquio's syndrome: large cells containing numerous vacuoles, limited by a single smooth membrane. On the other hand, no keratosulfate was found in urines and N-acetylgalactosamine-6-sulfate-sulfatase and beta-galactosidase assays in fibroblasts were normal. Thus, this mild form is different from the so-called Morquio's syndromes types A and B.
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PMID:[Heterogeneity of formes frustes of Morquio's disease]. 621 49

Two sisters and one brother, all with normal intelligence and no evidence of neurological abnormality, present progressive spondyloepiphyseal dysplasia, stunted growth, corneal opacities, and increased keratansulfaturia. Cultured skin fibroblasts from one of the children showed a remarkable deficiency of acid beta-galactosidase in association with normal activities of N-acetylgalactosamine-6-sulfate sulfatase and sialidase. Acid beta-galactosidase was also deficient in leukocytes of two children. Leukocytes of the parents exhibited intermediate activities, which suggests the primary nature of beta-galactosidase deficiency. Patients with MPS IV-B may be severely affected.
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PMID:Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family. 640 99

Fibroblasts from patients with Morquio B syndrome contain normal numbers of beta-galactosidase molecules with normal turnover but strongly reduced activity per enzyme molecule. Various substrate affinities are abnormal: the Km for methylum belliferyl (MU)-beta-galactoside is 4-10-fold elevated and affinity for keratan sulphate and oligosaccharides, isolated from Morquio B urine, was not detectable. In contrast, these substrate affinities are normal for beta-galactosidase in adult type GM1-gangliosidosis fibroblasts. Cell hybridization studies demonstrate that Morquio B syndrome and infantile and adult type GM1-gangliosidosis belong to the same complementation group. From these results we conclude that Morquio B syndrome is caused by a mutation in the structural gene for beta-galactosidase, which is allelic to the mutations in infantile and adult type GM1-gangliosidosis. Urinary excretion of keratan sulphate and oligosaccharides is abnormal in Morquio B syndrome but normal in adult type GM1-gangliosidosis. The catalytic properties of beta-galactosidase in Morquio B syndrome and GM1-gangliosidosis provide a possible explanation for the distinct clinical manifestations in these disorders.
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PMID:Morquio B syndrome: a primary defect in beta-galactosidase. 641 7


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