Is Menkes Syndrome a Copper Storage Disorder

Kaj Heydorn, Else Damsgaard, N. Horn, I. Tygstrup, S. Vestermark

    Research output: Contribution to journalJournal articleResearchpeer-review

    Abstract

    Menkes disease, which is transmitted as an X-linked, recessive trait, has been disclosed as an inborn error of Cu metabolism. The clinical symptoms are thought to be caused by defective metabolic functions due to a general body deficiency of Cu. It was recently demonstrated that Menkes disease is not a simple deficiency syndrome. There is strong evidence that the fetus is affected and that the abnormal Cu distribution is a manifestation of this. Some data demonstrating that significant extra-hepatic storage of Cu is also present in affected males during postnatal life is reported. Cu was determined post mortem in various tisses from 2 boys with Menkes disease and from age-matched controls who died from unrelated diseases.
    Original languageEnglish
    JournalClinical Genetics
    Volume14
    Issue number3
    Pages (from-to)186-187
    ISSN0009-9163
    Publication statusPublished - 1978

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