What Is Menkes' Disease?
Menkes syndrome is a disorder that affects copper levels in the body.
GENETIC CAUSE-
Mutations in the ATP7A gene cause Menkes Disease. This gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions. However, copper is toxic when in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased amount of copper can lower the activity of copper-containing enzymes. These enzymes are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.
INHERITANCE PATTERNS-
Menkes Disease is inherited in an X-linked recessive pattern. Males only need to have one copy of the affected gene to have Menkes’ Disease. Meanwhile, females need two copies to have Menkes’ Disease. However, female with a single copy of the affected gene, are carriers of Menkes’ Disease.
INCIDENCE-
The incidence of Menkes Disease is estimated to be 1 in 100,000 newborns.
GENETIC CAUSE-
Mutations in the ATP7A gene cause Menkes Disease. This gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions. However, copper is toxic when in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased amount of copper can lower the activity of copper-containing enzymes. These enzymes are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.
INHERITANCE PATTERNS-
Menkes Disease is inherited in an X-linked recessive pattern. Males only need to have one copy of the affected gene to have Menkes’ Disease. Meanwhile, females need two copies to have Menkes’ Disease. However, female with a single copy of the affected gene, are carriers of Menkes’ Disease.
INCIDENCE-
The incidence of Menkes Disease is estimated to be 1 in 100,000 newborns.