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Handbook of Copper Pharmacology and Toxicology pp 319–332Cite as

Molecular Genetics and Clinical Aspects of Menkes Disease and Occipital Horn Syndrome

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Abstract

Menkes disease (MNK) is an X-linked recessive disorder characterized by progressive neuronal degeneration and connective tissue abnormalities, first described by Menkes and co-workers in 1962 (1). In 1972, Danks et al. demonstrated that MNK is associated with copper deficiency as a result of a defect in intestinal copper absorption, which results in copper accumulation in the intestine (2,3). This observation, together with the discovery of a mutant strain of mice serving as a model of MNK, mottled mutant mice, led to many studies on copper metabolism and the pathophysiology of this disease (4,5). Moreover, patients with a milder MNK phenotype have been reported. These patients are generally said to have “mild MNK,” whereas the typical phenotype is referred to as “classical MNK.” In this chapter, classical MNK and mild MNK are referred to as MNK and mild MNK, respectively. Occipital horn syndrome (OHS), first described by Lazoff et al. in 1975 (6), is considered to represent the mildest form of MNK.

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  1. Hiroko Kodama
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  1. The National Health and Environmental Effects Research Laboratory, Research Triangle Park, NC, USA

    Edward J. Massaro

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Kodama, H. (2002). Molecular Genetics and Clinical Aspects of Menkes Disease and Occipital Horn Syndrome. In: Massaro, E.J. (eds) Handbook of Copper Pharmacology and Toxicology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-288-3_18

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  • DOI: https://doi.org/10.1007/978-1-59259-288-3_18

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