[4][5] Characteristic findings include kinky hair, growth failure, and nervous system deterioration.

Like all X-linked recessive conditions, Menkes disease is more common in males than in females.

[6] Onset occurs during infancy, with incidence of about 1 in 100,000 to 250,000 newborns; affected infants often do not live past the age of three years, though there are rare cases in which less severe symptoms emerge later in childhood.

Patients exhibit hypotonia (weak muscle tone), failure to thrive, hypothermia (subnormal body temperature), sagging facial features, seizures, and metaphyseal widening.

The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system such as lysyl oxidase.

In the Golgi apparatus, ATP7A protein provides copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system.

[7] Urine homovanillic acid/vanillylmandelic acid ratio has been proposed as a screening tool to support earlier detection.

[18][19] Since 70% of MNK cases are inherited, genetic testing of the mother can be performed to search for a mutation in the ATP7A gene.

Early treatment with injections of copper supplements (acetate or glycinate) may be of some slight benefit.