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What is Defect in Menke disease: and explain in detail?
MENKE DISEASE / kinky OR STEEL HAIR SYNDROME- deficiency of copper results in defective crosslinking of collagen and elastin by the copper-dependent enzyme lysyl oxidase. Defect in dietary absorption of copper Die with in 5 years of age Kinky hair and growth retardation. menke disease is X linked disease due to mutation in ATP 7 A gene. This gene is present on Xp 12-13.