Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.36 (hyaluronidase)
 4,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5 1/2 year old boy with I-cell disease (mucolipidosis II) had bilateral corneal haziness, early cortical cataracts and bilateral prominence of his eyes associated with shallow bony orbits. He died of pneumonia at age 5 1/2 years. Light and electron microscopic examination of the ocular and orbital tissues revealed an accumulation of acid mucopolysaccharide positive, hyaluronidase resistant material in fibroblasts and histiocytes which had partially replaced Bowman's membrane and the anterior stromal cells of the cornea. Similar material, as well as glycolipid-like substance, was found in the conjunctiva and in the retrobulbar soft tissues.
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PMID:Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. 108 52

The polymorphism of hyaluronidase (EC 3.2.1.35) (Hyase) was studied on a hyaluronan-polyacrylamide gel. Liver, placenta, ovary and breast tissue were found to have 7 active isoforms while leukocytes and platelets 5 and fibroblasts displayed no hyaluronidase activity. In serum, synovial fluid and urine soluble the most acidic forms are present. Desialylation showed that most of the hyaluronidase isoforms differ in the content of sialic acid. In patients with rheumatoid arthritis, hyaluronidase activity in the synovial fluid varied from not detectable to very high. A partial deficiency was demonstrated in sera from some patients with dysostosis multiplex without mucopolysacchariduria. In I-cell disease, hyaluronidase activity in serum was as that in controls.
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PMID:Hyaluronidase in human somatic tissues and urine: polymorphism and the activity in diseases. 765 57

A nearly pathognomonic finding of the lysosomal storage disorders mucolipidoses II and III is the marked increase of plasma lysosomal enzyme activities. The genetic lesion in ML II and III causes defective function of the enzyme UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. Defective function of this enzyme results in deficient phosphorylation of lysosomal enzyme asparagine-linked oligosaccharides and a consequent misrouting of many newly synthesized lysosomal enzymes. These enzymes are secreted from cells instead of being targeted to lysosomes, with resultant marked elevations of multiple lysosomal enzyme activities in plasma. We report here that plasma hyaluronidase activity, an endoglycosidase of presumably lysosomal origin, is not increased in the plasma from individuals with mucolipidoses II and III, unlike most lysosomal enzymes. Our data suggest the possibility that hyaluronidase is not targeted to lysosomes by a lysosomal enzyme phosphosmannosyl recognition mechanism. Alternatively, hyaluronidase activity may not be present in the cell type(s) responsible for the lysosomal enzyme hypersecretion in mucolipidoses II and III which, along with its deficiency in fibroblasts and leukocytes, would constitute an unusual tissue distribution of activity for a soluble lysosomal enzyme.
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PMID:Plasma hyaluronidase activity in mucolipidoses II and III: marked differences from other lysosomal enzymes. 924 Jul 45

Hyaluronidases are endo-glycosidases that degrade both hyaluronan (hyaluronic acid) (HA) and chondroitin sulfates. Deficiency of hyaluronidase activity has been predicted to result in a phenotype similar to that observed in mucopolysaccharidosis (MPS). In the present study, we surveyed a variety of patients with phenotypes similar to those observed in MPS, but without significant mucopolysacchariduria to determine if some are based on aberrations in serum hyaluronidase (Hyal-1) activity. The study included patients with well-characterized dysmorphic disorders occurring on genetic basis, as well as those of unkown etiology. The purpose of the study was to establish how wide spread were abnormalities in levels of circulating Hyal-1 activity. A simple and sensitive semi-quantitative zymographic procedure was used for the determination of activity. Levels of both beta-N-acetylglucosaminidase and beta-glucuronidase whose activities contribute to the total breakdown of hyaluronan (HA) were also measured, as well as the concentration of circulating HA. Among 48 patients with bone or connective tissue abnormalities, low levels of Hyal-1 activity were found in six patients compared to levels in 100 healthy donors (2.0-3.2 units/microL vs 6(+/- 1 SE) units/microL). These six patients exhibited a wide spectrum of clinical abnormalities, in particular shortened extremities: they included three patients with unknown causes of clinical symptoms, one patient with Sanfilippo disease, one of the seven patients with achondroplasia, and one with hypophosphotemic rickets. Normal levels of serum Hyal-1 activities were found in patients with Morquio disease, GM1 gangliosidosis, I cell-disease, 6 of the 7 patients with achondroplasia, Marfan's-syndrome and Ehlers-Danlos syndrome. No patient totally lacked serum Hyal-1 activity. Serum HA concentration was elevated in patients with Sanfilippo A and I-cell disease. Determination of serum and leukocyte Hyal-1 and serum HA may be useful to evaluate patients with metabolic and morphogenetic disorders.
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PMID:Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. 1631 83