Menkes disease - A case report and literature review

Abstract

Menkes disease, also known as "kinky hair disease", is a progressive neurodegenerative disorder, which is connected with disturbances of copper absorption. The disease is caused by the disability or lack of function of the copper transporting protein (type P of ATPase), which is normally responsible for the maintenance of an appropriate level of copper in the serum (there is a mutation of ATP7A gene, which is located on the locus Xq13.3). This results in the excessive accumulation of copper in the intestinal wall, proximal renal tubular, pancreas, skeletal muscles, and placenta, as well as its deficiency in brain cells, liver, and connective tissue cells. The copper taken with food is not absorbed from the gastrointestinal tract.