Trace element metabolism in children with Menke's syndrome

K Heydorn, E. Damsgaard, N. Horn, M. Mikkelsen, I. Tygstrup

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    Abstract

    Menkes' syndrome, or the kinky hair syndrome, is a hereditary, progressive disease caused by an X-linked recessive gene. The basic defect has been attributed to an insufficient intestinal absorption of copper. Observation of typical signs of Menkes' syndrome in neonates, however, indicates the possible presence of a prenatal defect in the metabolism of copper. Very little reliable information is available on the distribution of copper and other trace elements in foetuses of different age, and the sampling of tissue from a foetus suspected of Menkes' disease was therefore supplemented by sampling a number of controls of different gestational age. The analysis of samples from a total of 7 foetuses uf I 5-2' weeks' gestational age was carried out by neutron activation analysis with radiochemical separation, so that simultaneous determination of Cu, As, Se,
    and Mn was achieved. The analytical procedure was Investigated by the Analysis of Precision, and its performance characteristics were ascertained. Accuracy was
    checked by the analysis of Standard Reference Materials. Results for copper in »g per g wet weight are summarized in the accompanying table. As described in a paper published under the contract in question, the distribution of copper among the organs analyzed from the foetus ex Dec ted to develop Menkes' syndrome is entirely different from the distribution observed in the corresponding controla. In particular, the concentration in the liver was much lower, whereas all other tissues had concentrations above normal. Similar differences war« not found for the concentrations of As, Sa, and Mn in the foetuses investigated, and the distribution of these elements waa not vary different from that la adults. These observations do not support the hypothesis of defective intestinal transport at copper tile primary cauaa of Menkes' syndrom, nor do they indicate an inadaquat« placental transport of copper to the foetus. Clearly, a search mast be mad« for a metabolic defect that also affects the intrafoetal transport.
    Original languageEnglish
    Place of PublicationRoskilde, Denmark
    PublisherRisø National Laboratory
    Number of pages19
    ISBN (Print)87-550-0390-7
    Publication statusPublished - 1976
    SeriesRisø-M
    Number1852
    ISSN0418-6435

    Keywords

    • Risø-M-1852

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