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)

Jaundice is the most common condition of otherwise healthy, full-term newborns during the first week of life, and Chinese newborns are known to have a higher incidence and severity of neonatal jaundice than Caucasian newborns. This prospective study was designed to examine factors affecting the severity of neonatal jaundice of unknown etiology in the first week of life with special emphasis on the role of enterohepatic circulation. One hundred and thirty-six healthy, full-term newborns were enrolled in this study. Serum bilirubin levels were monitored daily in the morning for the first five days after delivery. Cord blood, postpartal maternal blood, breast milk and infants' stools were analyzed for beta-glucuronidase activity. Infants with serum peak bilirubin level less than or equal to 7 mg/dl had older gestational age, less maximal weight loss and the bilirubin levels peaked at an earlier age than those infants with peak serum bilirubin level more than 7 mg/dl. They also had lower fecal beta-glucuronidase activity in the stool collected at a mean age of 4.5 (+/- 0.6) days. Among the 136 study cases, 92 infants received some maternal breast milk. There was considerable amount of beta-glucuronidase activity in the human breast milk. Yet its presence did not affect the fecal enzyme activity. Mixed breast feeding also did not influence the serum bilirubin level in the first four days of life. However, infants fed dominantly with breast milk had a higher incidence of serum bilirubin level more than 10 mg/dl at five days old than infants fed solely by infant formula.(ABSTRACT TRUNCATED AT 250 WORDS)
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Factors affecting the severity of neonatal jaundice of unknown etiology: the role of enterohepatic circulation. 162 48

I-cell disease (mucolipidosis II) is a rare lysosomal storage disease, with its primary defect the deficiency of an enzyme responsible for lysosomal enzyme processing, resulting in multiple lysosomal enzyme insufficiency. Diagnosis of I-cell disease usually can be made by the specific patterns of enzyme distribution: deficient intracellular, but excessive extracellular, enzymes. A six month old female infant was found to have bilateral congenital dislocation of hips, developmental delay, coarsening of facial appearance and dysostosis multiplex. In view of the very early onset of disease, I-cell disease was suspected. Lysosomal enzyme tests (including alpha-mannosidase, alpha-fucosidase, beta-glucuronidase and beta-galactosidase) were performed on the leukocytes, skin fibroblasts, plasma and media from fibroblast cultures. All activities of the four enzymes were low in both leukocytes and fibroblasts, but were 10- to 70-fold higher than normal in plasma, and high in culture media. Both the clinical and laboratory findings here were consistent with a diagnosis of I-cell disease.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Diagnosis of I-cell disease. 783 83

We identified four genes for potential equilibrative nucleoside transporters (ENTs) from rice (Oryza sativa; designated OsENT1 through OsENT4). Growth analysis of budding yeast (Saccharomyces cerevisiae) cells expressing OsENTs showed that OsENT2 transported adenosine and uridine with high affinity (adenosine, K(m) = 3.0 microm; uridine, K(m) = 0.7 microm). Purine or pyrimidine nucleosides and 2'-deoxynucleosides strongly inhibited adenosine transport via OsENT2, suggesting that OsENT2 possesses broad substrate specificity. OsENT2-mediated adenosine transport was resistant to the typical inhibitors of mammalian ENTs, nitrobenzylmercaptopurine ribonucleoside, dilazep, and dipyridamole. The transport activity was maximal at pH 5.0 and decreased slightly at lower as well as higher pH. In competition experiments with various cytokinins, adenosine transport by OsENT2 was inhibited by isopentenyladenine riboside (iPR). Direct measurements with radiolabeled cytokinins demonstrated that OsENT2 mediated uptake of iPR (K(m) = 32 microm) and trans-zeatin riboside (K(m) = 660 microm), suggesting that OsENT2 participates in iPR transport in planta. In mature plants, OsENT2 was predominantly expressed in roots. The OsENT2 promoter drove the expression of the beta-glucuronidase reporter gene in the scutellum during germination and in vascular tissues in germinated plants, suggesting a participation of OsENT2 in the retrieval of endosperm-derived nucleosides by the germinating embryo and in the long-distance transport of nucleosides in growing plants, respectively.
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PMID:Functional characterization and expression analysis of a gene, OsENT2, encoding an equilibrative nucleoside transporter in rice suggest a function in cytokinin transport. 1584 98