Menkes disease

Menkes disease, also called Menkes syndrome, is an X-linked recessive disorder caused by mutations in the gene coding for the copper-transport protein ATP7A. The faulty transporter leaves the body unable to properly distribute copper, so copper builds up in some tissues while the brain becomes copper-deficient. Because it is X-linked recessive, the disease mainly affects males; about 30 percent of cases arise from new mutations and 70 percent are inherited from carrier mothers. Affected infants develop normally at first, then show kinky, brittle hair, failure to thrive, weak muscle tone, seizures, progressive neurodegeneration, weakened bones and blood vessel damage in the brain, and most do not live past age three, though rare milder cases appear later in childhood.