NEET PG Medical – 2019 – Question – 39
Menkes disease is associated with which enzyme deficiency.
a) lysyl oxidase
b) Methionine synthase
c) Glutamyl aminopeptidase
d) Lysyl hydroxylase
Correct Answer – A
Answers: A. lysyl oxidase
One of the enzymes, lysyl oxidase, requires copper for proper function. This enzyme cross-links tropocollagen into strong collagen fibrils.
Menkes disease (MNK), also known as Menkes syndrome, is an Xlinked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.
The decreased supply of copper can reduce the activity of numerous copper-containing enzymes.
These are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system such as lysyl oxidase.
