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  • Adrenal calcification  (1)
  • Biotinidase  (1)
  • Case report  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Pseudohypoparathyroidism and hypocalcemic “myopathy” (1981)
    Springer
    Journal of molecular medicine 59 (1981), S. 1195-1199 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF01721214
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 45-53 
    Details
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445892
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Rett syndrome revisited: A patient with biotin dependency (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 563-566 
    Details
    ISSN: 1432-1076
    Keywords: Rett syndrome ; Hyperammonemia ; Multiple carboxylases ; Holocarboxylase synthetase ; Biotinidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglylglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (V max and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496036
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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