Menkes disease is due to deficiency of:
Correct Answer: Copper
Description: Ans. (b) CopperRef: Harrison's 20th ed. P 2318Menkes Kinky Hair Syndrome* X-Linked metabolic disturbance of copper metabolism* Characterized by:# Mental retardation# Hypocupremia# Decreased circulating ceruloplasmin* Due to mutation in ATP7-A gene (copper transporting gene)* Cause of death: Dissecting aneurysm or cardiac rupture (usually <5 years of age)* Wilson's disease: Copper accumulation in liver, brain; due to mutation in ATP7-B gene.* Acrodermatitis enteropathica: AR condition. Due to zinc deficiency* Chromium potentiates the action of insulin and improves lipid profile* Keshan disease: Endemic cardiomyopathy, due to dietary deficiency of selenium* Kashin-Beck disease/Selenosis: Chronic ingestion of large amount of selenium. Characterized by hair loss and nail brittleness, garlic breath odor, rash, myopathy etc.
Category:
Biochemistry
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