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)

Three adult patients from two families have shown slowly progressive neurologic deterioration since the age of 3 years, associated with profound beta-galactosidase deficiency. Although affected individuals from the two different families differ in degree of intellectual deficit, facial coarseness and spondyloepiphyseal dysplasia, all lack visceromegaly and macular red spots. The diversity of phenotypic expression in these patients and others previously reported suggests the existence of composite genotypes (compound and double heterozygosity).
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PMID:Beta-galactosidase deficiency: prolonged survival in three patients following early central nervous system deterioration. 41 29

A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase.
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PMID:Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. 81 53

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

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