Menkes Disease
A rare genetic disorder affecting copper metabolism. Early diagnosis saves lives.
Free Early Diagnosis Brochure
Produced by the Copper(less) Committee — available in English
What is Menkes Disease?
Menkes disease (also known as Menkes syndrome or kinky hair disease) is a rare X-linked recessive genetic disorder that affects copper levels in the body. It is caused by mutations in the ATP7A gene, which encodes a copper-transporting ATPase essential for normal copper distribution throughout the body.
Who is affected?
Menkes disease primarily affects male infants (1 in 100,000–250,000 live births). Because the gene is located on the X chromosome, females are typically carriers and rarely show symptoms. Most affected children develop normally for the first few weeks of life, after which severe neurological deterioration begins.
Symptoms
Common features include: distinctive kinky, sparse, brittle hair; severe developmental regression and neurological deterioration; seizures; hypotonia (low muscle tone); failure to thrive; hypothermia; and abnormal facial features. Without treatment, most affected children do not survive beyond early childhood.
Diagnosis
Early diagnosis is critical. Diagnosis is confirmed through: plasma copper and ceruloplasmin levels (typically very low); molecular genetic testing of the ATP7A gene; biochemical studies of copper transport in fibroblasts. Prenatal diagnosis is possible for families with a known mutation.
Current Treatment
Copper-histidine subcutaneous injections can slow neurological deterioration if started in the newborn period — before irreversible neurological damage occurs. Gene therapy is an active area of research. There is currently no cure, but early intervention significantly improves outcomes.
NPP-Menkes — Free Treatment Program
Experimental treatment with Elesclomol-Copper (ES-Cu), provided free of charge by Menkes International. 9 children treated as of January 2026.