In simple words: This code represents problems with how the body processes copper, which is an important mineral. These problems can lead to several health issues affecting the brain, nerves, and liver.It includes conditions like Menkes disease, where babies have kinky hair and developmental problems, and other similar conditions.

This code encompasses a range of inherited disorders affecting copper metabolism. These disorders can involve either copper deficiency due to malabsorption or impaired transport, or copper toxicity due to impaired excretion. These metabolic issues can lead to neurological, psychiatric, and liver abnormalities. This code specifically excludes Wilson's disease (E83.01) and other specified disorders of copper metabolism. Examples include Menkes disease (also known as kinky hair disease or steely hair disease), occipital horn syndrome (a milder form of Menkes), and other, less common copper metabolism disorders.

Example 1: A 3-month-old infant presents with slow development, hypotonia, seizures, and unusual, brittle hair. Lab tests reveal low copper and ceruloplasmin levels, and genetic testing confirms a diagnosis of Menkes disease., A patient experiences neurological symptoms including tremors, difficulty speaking, and personality changes. After extensive testing, including liver biopsy and urine copper tests, they are diagnosed with a rare copper metabolism disorder, not Wilson's disease., A child with developmental delays, digestive problems, and unusual skin pigmentation undergoes metabolic testing which reveals an abnormality in copper transport. Genetic testing confirms a diagnosis of occipital horn syndrome, a milder form of Menkes disease.

Documentation should include signs and symptoms such as developmental delays, neurological or psychiatric abnormalities, and liver-related issues. Results of laboratory tests including urine copper, serum ceruloplasmin, liver function tests, and genetic testing are essential for accurate coding.