Menkes disease
| Menkes disease | |
|---|---|
| Other names | Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease |
| Child with Menkes disease, showing characteristic hair | |
| Specialty | Pediatrics, Medical Genetics |
| Causes | Mutations in genes coding for the copper-transport protein ATP7A |
| Frequency | 1 in 254,000 (Europe) 1 in 357,143 (Japan) |
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. 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. The disorder was first described by John Hans Menkes in 1962.
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.