Menkes disease is a genetic disorder that affects how copper moves through the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate; and deterioration of the nervous system. Children with Menkes disease typically begin to develop symptoms during infancy. If not treated, the disease can cause death in children as young as 3 years old. The NICHD scientists are examining the genetic origins of Menkes disease and studying the effectiveness of early copper injections and gene-replacement therapies for treating the disease. Research also includes work on a universal newborn screening test for newborns.
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Common Names
- Kinky hair disease
- Menkes disease
- Menkes syndrome
- Steely hair disease
Medical or Scientific Names
- Congenital hypocupremia (pronounced kuhn-JEN-i-tl hahy-poh-kyoo-PREE-mee-uh)
- Copper transport disease
- Menkes disease
- Menkes syndrome
- MK
- MNK
- X-linked copper deficiency