Menkes Kinky hair syndrome is characterized by congenital deficiency of
Correct Answer: Copper binding ATPase
Description: Ans. d (Copper binding ATPase) (Ref. Harper 28th/573-4; H-17th/449).Menkes disease ("kinky" or "steely" hair disease) is a disorder of copper metabolism that occurs due toMutations in the Gene Encoding a Copper-Binding P-Type ATPase.MENKES DISEASE# It is X-linked, affects only male infants, involves the nervous system, connective tissue, and vasculature, and is usually fatal in infancy.# When altered by mutation, copper is not mobilized normally from the intestine, in which it accumulates, as it does in a variety of other cells and tissues, from which it cannot exit.# Despite the accumulation of copper, the activities of many copper-dependent enzymes are decreased, perhaps be- cause of a defect of its incorporation into the apoenzymes.# Normal liver expresses very little of ATPase, which explains the absence of hepatic involvement in Menkes disease.Wilson Disease Is Also Due to Mutations in a Gene Encoding a Copper-Binding P-Type ATPase.
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now