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Genetic disorders of copper metabolism.

Abstract

In this review we discuss four genetic disorders of copper metabolism. Wilson's disease and Indian childhood cirrhosis result from the toxic effects of copper accumulation in the liver. Menkes' disease and, most likely, occipital horn syndrome result from copper deficiency secondary to disturbances in copper transport. The recent cloning and sequencing of the genes defective in Wilson's disease and Menkes' disease provide the molecular basis for understanding the causes of the two major disorders of copper transport in humans. Mutations that result in Wilson's and Menkes' diseases were shown to disrupt the function of two related P-type copper transporting ATPases. Genetic analysis demonstrates that Wilson's disease and, probably, Menkes' disease are caused by a number of different mutations within a single gene (allelic heterogeneity), and that this occurrence likely explains the clinical heterogeneity of both diseases. The possibility that different mutations within the same gene account for the similar phenotypes of Wilson's disease and Indian childhood cirrhosis on the one hand and for Menkes' disease and occipital horn syndrome on the other are discussed.

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  • Authors+Show Affiliations

    ,

    College of Physicians and Surgeons, Columbia University, New York.

    Source

    Current opinion in pediatrics 6:6 1994 Dec pg 698-701

    MeSH

    Child
    Copper
    Hepatolenticular Degeneration
    Humans
    Menkes Kinky Hair Syndrome
    Metabolism, Inborn Errors

    Pub Type(s)

    Journal Article
    Review

    Language

    eng

    PubMed ID

    7849817

    Citation

    Petrukhin, K, and T C. Gilliam. "Genetic Disorders of Copper Metabolism." Current Opinion in Pediatrics, vol. 6, no. 6, 1994, pp. 698-701.
    Petrukhin K, Gilliam TC. Genetic disorders of copper metabolism. Curr Opin Pediatr. 1994;6(6):698-701.
    Petrukhin, K., & Gilliam, T. C. (1994). Genetic disorders of copper metabolism. Current Opinion in Pediatrics, 6(6), pp. 698-701.
    Petrukhin K, Gilliam TC. Genetic Disorders of Copper Metabolism. Curr Opin Pediatr. 1994;6(6):698-701. PubMed PMID: 7849817.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Genetic disorders of copper metabolism. AU - Petrukhin,K, AU - Gilliam,T C, PY - 1994/12/1/pubmed PY - 1994/12/1/medline PY - 1994/12/1/entrez SP - 698 EP - 701 JF - Current opinion in pediatrics JO - Curr. Opin. Pediatr. VL - 6 IS - 6 N2 - In this review we discuss four genetic disorders of copper metabolism. Wilson's disease and Indian childhood cirrhosis result from the toxic effects of copper accumulation in the liver. Menkes' disease and, most likely, occipital horn syndrome result from copper deficiency secondary to disturbances in copper transport. The recent cloning and sequencing of the genes defective in Wilson's disease and Menkes' disease provide the molecular basis for understanding the causes of the two major disorders of copper transport in humans. Mutations that result in Wilson's and Menkes' diseases were shown to disrupt the function of two related P-type copper transporting ATPases. Genetic analysis demonstrates that Wilson's disease and, probably, Menkes' disease are caused by a number of different mutations within a single gene (allelic heterogeneity), and that this occurrence likely explains the clinical heterogeneity of both diseases. The possibility that different mutations within the same gene account for the similar phenotypes of Wilson's disease and Indian childhood cirrhosis on the one hand and for Menkes' disease and occipital horn syndrome on the other are discussed. SN - 1040-8703 UR - https://www.unboundmedicine.com/medline/citation/7849817/Genetic_disorders_of_copper_metabolism_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=7849817.ui DB - PRIME DP - Unbound Medicine ER -