Menkes Kinky hair syndrome is characterized by congenital deficiency of

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.