Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.31 (beta-glucuronidase)
 7,680 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuronal ceroid-lipofuscinosis is characterized by pigmentary degeneration of the retina, psychomotor degeneration, epilepsy and intracellular deposition of ceroidlipofuscin. Recent reports have suggested that deficiency of peroxidase is the basic genetic defect. However, deficiency of myeloperoxidase could be demonstrated in some but not all patients; this deficiency was noted only when p-phenylenediamine (PPD) was used as hydrogen donor and could not be confirmed with guaiacol. We found that horseradish peroxidase (HR-P) oxidized PPD in the absence of added H2O2. The oxidative product of PPD showed the same absorption spectrum as the peroxidative product. The oxidation of PPD by HR-P was not inhibited by catalase or superoxide dismutase. In addition, catalase oxidized PPD in the presence of H2O2. Soluble and granular fractions obtained from human polymorphonuclear leukocytes (PMN) also oxidized PPD in the absence of H2O2. Addition of H2O2 inhibited the oxidation of PPD in some cell fractions. This inhibition could be partially eliminated by dialysis of the cell fractions. Thus, PPD is not a suitable hydrogen donor for the study of peroxidase. This may explain the variable results obtained by the previous investigators. In contrast, guaiacol did not show these undesirable characteristics. The PMN peroxidase (measured with guaiacol), catalase, beta-glucuronidase, acid and alkaline phosphatases were studied in individuals from three families with juvenile neuronal ceroid-lipofuscinosis. Family 1: an affected boy and healthy parents; all showed normal enzyme activities in both soluble and granular fractions. Family 2: two affected sisters, one healthy sib and mother, and Family 3: one affected boy; all showed reduced peroxidase activities in the granular fractions. Other enzymes were normal. The role of peroxidase deficiency in the pathogenesis of neuronal ceroid-lipofuscinosis is not clear. The basic defect of this syndrome remains uncertain.
 ...
PMID:Neuronal ceroid-lipofuscinosis. Studies of granulocyte enzyme activities. 65 Feb 51

Strenuous physical activity, aspirin and heat stress (Finnish sauna) were all found to significantly increase urinary dolichol excretion. In contrast, serum dolichol concentration studied before and after aspirin and sauna, was not affected. A similar aspirin-induced increase, as seen in urinary dolichol concentration, was also observed in the urinary excretion of two lysosomal enzymes--beta-hexosaminidase and beta-glucuronidase. In contrast, the excretion of two non-lysosomal enzymes--lactate dehydrogenase and leucine aminopeptidase--was not affected. The lack of correlation between serum and urinary dolichols, and the parallel increase in urinary dolichols and the activities of the lysosomal enzymes suggest that urinary dolichols may be derived from the lysosomes of the renal cells. We conclude that the finding of increased urinary dolichol concentrations in some relatively common conditions limits the clinical use of urinary dolichols as a diagnostic tool in neuronal ceroid lipofuscinosis or alcoholism.
 ...
PMID:Strenuous physical activity, aspirin and heat stress increase urinary dolichols: evidence for lysosomal origin of urinary dolichols. 184 Feb 45