Menkes syndrome: multisystemic disorder of copper metabolism

Menkes syndrome is a lethal multisystemic disorder of copper metabolism. Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A (ATPase copper transporting alpha) gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The ATP7A protein is found throughout the body, except in liver cells. In the small intestine, this protein helps control the absorption of copper from food.

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.

Progressive neurodegeneration and connective tissue disturbances, together with the peculiar ‘kinky’ hair are the main manifestations. Menkes syndrome is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males.

Menkes syndrome is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the diagnosis.
Menkes syndrome: multisystemic disorder of copper metabolism