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  • 1
    Electronic Resource
    Electronic Resource
    A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses (1983)
    Springer
    Journal of inherited metabolic disease 6 (1983), S. 62-81 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reports the clinical and biochemical results in six patients with Hurler disease (Mucopolysaccharidosis IH; McKusick 25280), two patients with Hunter disease (Mucopolysaccharidosis II; McKusick 25285) and one patient with Sanfilippo B disease (Mucopolysaccharidosis IIIB; McKusick 25292) who were treated by fibroblast transplantation. Except for one patient who died for a coincidental reason, the patients have been studied for between 2.5 and 4.5 years. The clinical course of the disease was not materially altered. There was no evidence that the patients had developed immune responses against the transplanted fibroblasts. Transplantation did not produce measurable levels of either α-l-iduronidase (EC 3.2.1.76) in the leukocytes from patients with Hurler disease or ofN-acetyl-α-d-glucosaminidase (EC 3.2.1.50) in the plasma of the patient with Sanfilippo B disease. Under the conditions used for the assay, leukocytes from the patients with Hunter disease had detectable levels of residual α-l-idurono-2-sulphate sulphatase activity which were increased after the transplants, although these changes were of inconstant size and their time course was not consistently related to the transplantations. Cytogenetic studies in cases where the donor was of the opposite sex detected only cells of the recipient's sex among the fibroblasts grown from biopsies of the transplantation sites. The technique used would have detected a donor to recipient cell ratio of 1:100. We found no consistent long-term trends in the excretion patterns of glycosaminoglycans and oligosaccharides from either a quantitative or qualitative point of view which could be specifically related to the transplantation. The combined administration of immunosuppressive doses of prednisolone and azathioprine was associated with an increased excretion of the lower molecular weight glycosaminoglycans. We conclude that fibroblast transplantation is not therapeutically useful in the diseases studied.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02338973
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Neuropathological and clinical correlations in hurler disease (1986)
    Springer
    Journal of inherited metabolic disease 9 (1986), S. 261-272 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non-neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well-preserved in patient 1, but seriously and typically impaired in patient 2. The reason for this discrepancy has been investigated by reference to the neuropathological findings, the results of α-l-iduronidase assays using different substrates and comparisons to other cases (patients 3 and 4). We suggest that patient 1 is an unusual variant of the disease who may have had a very low residual α-l-iduronidase activity in neuronal cells only, and that this could not be demonstrated by either enzyme assays on whole brain using the 4-methylumbelliferyliduronide substrate (Crowet al., 1983) or in studies on fibroblast lysates using a radioactive disaccharide substrate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799658
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Lesch-nyhan syndrome: Growth delay, testicular atrophy and a partial failure of the 11β-hydroxylation of steroids (1987)
    Springer
    Journal of inherited metabolic disease 10 (1987), S. 210-223 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial defect in the adrenocortical 11β-hydroxylation of steroids was demonstrated after ACTH stimulation in all four patients studied. This hydroxylation takes place in mitochondria the function of which is modulated by purine nucleotide concentrations; this may be the link with the enzyme defect. Testicular atrophy at autopsy was found in two pubertal age boys and seven patients aged 12–17 years had no signs of puberty. All five boys aged 3–11 years showed less than the normal mean response of plasma testosterone concentration to human chorionic gonadotrophin despite the normal histological appearance of the testes of one 6-year-old-boy. Follicle stimulating hormone responses to gonadotrophin releasing hormone are probably less than in normal in at least three of the seven prepubertal boys. The absence of the normally high activities of hypoxanthine guanine phosphoribosyltransferase in testes appears to inhibit their ability to respond to gonadotrophin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01800063
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    Paper (German National Licenses)
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