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  • Case report  (1)
  • Orotidine-5-phosphate-decarboxylase  (1)
  • Orotsäure  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1195-1199 
    ISSN: 1432-1440
    Keywords: Fallbericht ; Pseudohypoparathyreoidismus ; hypocalcämische Myopathie ; Case report ; Pseudohypoparathyroidism ; Hypocalcemic myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A patient with the clinical features of pseudohypoparathyreoidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
    Notes: Zusammenfassung Es wird über einen Fall von Pseudohypoparathyreoidismus berichtet, bei dem gleichzeitig erhöhte CPK- und LDH-Konzentrationen im Serum festgestellt wurden, die sich nach Therapie normalisierten. Klinische Zeichen einer Myopathie bestanden nicht. Das Biopsiematerial vom m. tibialis anterior war mikroskopisch unauffällig. Biochemisch fand sich eine verminderte Phosphorylase-a-Aktivität bei normaler Gesamtphosphorylase-Aktivität (a und b). Die Bedeutung des Befundes und die möglichen pathogenetischen Mechanismen werden diskutiert.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 61 (1983), S. 1191-1197 
    ISSN: 1432-1440
    Keywords: Pyrimidine biosynthesis ; Dietary purines and pyrimidines ; Orotic acid ; Allopurinol ; Orotidine-5-phosphate-decarboxylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Young healthy volunteers received a purine-free, isoenergetic formula diet over a period of 28 to 32 days. After a short time under formula diet alone 400 mg allopurinol were administered daily. After a further 10 days each volunteer received daily, in addition, either 4 g RNA, 4 g RNA-hydrolysate, 1 g guanosine-5-monophosphate (GMP), 1 or 3 g adenosine-5-monophosphate (AMP), uridine-5-monophosphate (UMP), cytidine-5-monophosphate (CMP) or adenosine, guanosine, uridine, cytidine, guanine, hypoxanthine, xanthine, cytosine and uracil. Finally the allopurinol was omitted. The renal excretion of total orotic acid (orotic acid and orotidine), uric acid and creatinine was determined daily; serum uric acid concentration and the enzyme activities of orotidine-5-phosphate-decarboxylase (ODCase) and hypoxanthine-guanine-phosphoribosyltransferase (HGPRTase) from erythrocytes were determined every other day. The results show that RNA, RNA-hydrolysate, purine- and pyrimidines and -nucleosides as well as hypoxanthine, and to a lesser extent adenine, diminish allopurinol-induced orotaciduria. This is compatible with an influence of dietary purines and pyrimidines on human pyrimidine biosynthesis.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 53 (1975), S. 255-260 
    ISSN: 1432-1440
    Keywords: Purine metabolism ; pyrimidine metabolism ; orotic acid ; allopurinol ; Purinstoffwechsel ; Pyrimidinstoffwechsel ; Orotsäure ; Allopurinol
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Allopurinol führt durch Hemmung der Xanthinoxydase zu einem Abfall der Serumharnsäure und der renalen Harnsäureausscheidung bei gleichzeitigem Anstieg der Ausscheidung von Hypoxanthin und Xanthin im Urin. Der Anstieg der Oxypurinelimination ersetzt jedoch bei den meisten Patienten nicht die Abnahme der renalen Harnsäureausscheidung. Dies wird auf eine zusätzliche Hemmung der Purinsynthese de novo zurückgeführt. Eine unterschiedliche Beeinflussung der endogenen und exogenen Uratquote durch Allopurinol bietet eine alternative Erklärung des Purindefizites. Die Beeinflussung des Pyrimidinstoffwechsels beruht auf einer Hemmung des Enzyms Orotidyldecarboxylase durch die Ribonucleotide von Allopurinol, Xanthin und Oxipurinol. Sie geht mit einer vermehrten Ausscheidung von Orotsäure und Orotidin im Urin einher. Die zusätzliche Gabe von Ribonucleinsäure führt zu einer deutlichen Abnahme der durch Allopurinol hervorgerufenen Orotacidurie. Der Hemmung der Orotidyldecarboxylase folgt unter kontinuierlicher Allopurinolverabreichung ein Anstieg der Aktivität von Orotatphosphoribosyltransferase und Orotidyldecarboxylase, dessen Mechanismus noch nicht vollständig geklärt ist. Allopurinol wird rasch metabolisiert. Nur 3–10% werden unverändert im Urin ausgeschieden. Hauptmetabolit ist Oxipurinol. Ein kleiner Anteil wird zu den Ribonucleosiden und Ribonucleotiden1 von Allopurinol und Oxipurinol umgewandelt.
    Notes: Summary Allopurinol inhibits xanthinoxydase. This results in a decrease of the serum and urinary uric acid: Simultaneously the renal excretion of hypoxanthine and xanthine increases. In most patients, however, the decrease of urinary uric acid is not completely replaced by the increase of oxypurines. This is attributed to an additional inhibition of de novo purine biosynthesis. The different effect of allopurinol on the endogenous and exogenous urates offers an alternative approach to explain the “purine deficit”. The effect of allopurinol on the pyrimidine metabolism is due to an inhibition of orotidylic decarboxylase by the ribonucleotides of allopurinol, xanthine and oxipurinol. This inhibition is followed by an increase in the urinary excretion of orotidine and orotic acid. The additional administration of ribonucleic acid leads to a striking decrease of the allopurinol induced orotaciduria. The continuous administration of allopurinol also produces an increase in the activity of orotate phosphoribosyltransferase and orotidylic decarboxylase. At this time the mechanism of this increase in activity is not completely understood. Allopurinol is metabolized rapidly. Only 3–10% of an administered dose are excreted unchanged in the urine. Most of the allopurinol is oxidized to oxipurinol. A small portion is converted to the ribonucleosides and ribonuclcotides of allopurinol and oxipurinol.
    Type of Medium: Electronic Resource
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