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Medicine Endocrinology 0bb0b24e

MEDNIK syndrome - which of the following is true

A
Caused by mutations in the AP1S1 gene
B
Disorder of copper metabolism
C
Mental retardation, deafness, neuropathy are seen in this disorder
D
All of the above
High-Yield Explanation
A rare multisystem disorder of copper metabolism with features of both Menke's and Wilson's diseases has been repoed. It is termed the MEDNIK (mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia) syndrome and is caused by mutations in the AP1S1 gene, which encodes an adaptor protein necessary for intracellular trafficking of copper pump proteins ATP7A (Menke's disease) and ATP7B (Wilson's disease).

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