Menkes and colleagues described Menkes disease in 1962 that reported five male infants in a family affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. Menkes disease is also called “kinky or steely hair disease.” The incidence of MK was originally estimated to be 1/35,000 (Danks et al. 1972), but more recent estimates have shown it to be a very rare disorder with 1/300,000 live-born babies affected (Tönnesen et al. 1991, 1992).
KeywordsChorionic Villus Lysyl Oxidase Menkes Disease Carrier Detection ATP7A Gene
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