Copper deficiency is rare in individuals with a normal diet. Deficiency is seen more often in premature infants, patients on long-term parenteral nutrition (TPN), or patients with malabsorption syndromes.
Wilson Disease
Wilson disease is an autosomal recessive trait caused by mutations in the ATP7B gene. This gene encodes a transmembrane copper-transporting P-type ATPase that exports copper out of cells. Because of this defective transporter, patients with Wilson disease have copper accumulation in the body, particularly in the liver, brain, and eyes.
The signs and symptoms of Wilson disease usually appear between the ages of 6 and 45 but most often are documented during the teenage years. Liver disease is typically the initial feature of Wilson disease and presents as jaundice, fatigue, loss of appetite, and abdominal swelling. Nervous system or psychiatric problems such as clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings can also be seen. Patients with Wilson disease may have copper deposits visible in the cornea that appear as a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the iris. The median life expectancy in Wilson disease is about age 40.
Menkes Disease
Mutations in the ATP7 transporter also cause Menkes syndrome, like Wilson disease, but in Menkes, the mutation is the ATP7A gene rather than the ARP7B gene. Menkes is characterized by sparse, kinky hair, failure to gain weight, and lack of growth (i.e., failure to thrive). Deterioration of the nervous system is also often present, with patients showing decreased muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Menkes disease is a fatal neurodegenerative disorder. Most patients die in early childhood, by age three.
