Copper is a component of many body proteins; almost all of the body’s copper is bound to copper proteins.
Copper deficiency may be acquired or inherited. (See also Overview of Mineral Deficiency and Toxicity Overview of Minerals Six macrominerals are required by people in gram amounts. Four cations: Sodium, potassium, calcium, and magnesium Two accompanying anions: Chloride and phosphorus Daily requirements range from... read more .)
If the genetic mechanisms controlling copper metabolism are normal, dietary deficiency rarely causes clinically significant copper deficiency. Causes include
Deficiency may cause neutropenia, impaired bone calcification, myelopathy, neuropathy, and hypochromic anemia not responsive to iron supplements.
Diagnosis of acquired copper deficiency is based on low serum levels of copper and ceruloplasmin, although these tests are not always reliable.
Treatment of acquired copper deficiency is directed at the cause, and copper 1.5 to 3 mg/day orally (usually as copper sulfate) is given.
Inherited copper deficiency occurs in male infants who inherit a mutant X-linked gene. Incidence is about 1 in 100,000 to 250,000 live births. Copper is deficient in the liver, serum, and essential copper proteins, including cytochrome-c oxidase, ceruloplasmin, and lysyl oxidase.
(See also Wilson Disease Wilson Disease Wilson disease results in accumulation of copper in the liver and other organs. Hepatic or neurologic symptoms develop. Diagnosis is based on a low serum ceruloplasmin level, high urinary excretion... read more .)
Diagnosis of inherited copper deficiency is based on low copper and ceruloplasmin levels in serum. Because early diagnosis and treatment seem to result in a better prognosis, the disorder is ideally detected before age 2 weeks. However, diagnostic accuracy of these tests is limited. Thus, other tests are being developed.
Parenteral copper is usually given as copper histidine 250 mcg subcutaneous injection twice a day to age 1 year, then 250 mcg subcutaneously once/day until age 3 years; monitoring of kidney function is essential during treatment.
Despite early treatment, many children have abnormal neurodevelopment.