Abstract
Menkes disease was first described in 1962 [1] and involved five patients in the same family who all died before the age of three years. They all displayed similar clinical symptoms. Pedigree analysis revealed that the disease was limited to males and was inherited in a sex-linked recessive manner. All patients gained very little weight in the months following birth despite maintaining a normal diet. Hair abnormalities were present in all the affected children. Hair appeared coarse and brittle having an ivory-white colour due to depigmentation. Microscopic analysis revealed that it was either twisted, of varying caliber or fractured at regular intervals. Patients developed seizures between the ages of two and fifteen months. Postmortem examination of patients showed widespread degeneration in the cerebrum and cerebellum, the overall brain size being significantly smaller than average. Over the years since the first report, there has been an increasing number of case reports conforming to the original description of the disease. Subsequently, other clinical features were also reported, including hypothermia, thrombosis, hyperbilirubinaemia, bone changes, arterial rupture and characteristic facies. Menkes disease patients die before the age of three years. In this chapter, we will discuss the biochemical, clinical, genetic and therapeutic aspects of Menkes disease.
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Sarkar, B. (1998). Menkes disease: a genetic defect of copper transport. In: Rainsford, K.D., Milanino, R., Sorenson, J.R.J., Velo, G.P. (eds) Copper and Zinc in Inflammatory and Degenerative Diseases. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-3963-2_13
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DOI: https://doi.org/10.1007/978-94-011-3963-2_13
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