Mutations in the ATP7A gene, located on chromosome Xq21.1, leads to<unk>  syndrome. This condition is inherited in an X-linked recessive pattern. About 30% of MNK cases are due to new mutations and 70% are inherited, almost always from the mother. Even though the disease is more common in males, females can still be a carrier of the disease. As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system such as lysyl oxidase. As with other X-linked disorders, female children of a carrier mother have an even chance of carrying the disorder, but are normally well; male children have an even chance of having the disorder or of being free from it. A genetic counselor may have useful advice.
Menkes disease
Canavan disease
Sandhoff disease
Farber disease
Keshan disease
Aceruloplasminemia
CADASIL
Stratton Parker syndrome