Menkes Disease

Menkes disease is a rare X-linked inherited disorder that disrupts the body’s ability to absorb, transport, and utilize copper, an essential trace element. The resulting copper deficiency in critical organs—especially the brain—leads to severe neurodevelopmental impairment, growth failure, and early death if untreated.
Key Points
Caused by mutation of the ATP7A gene located on the X chromosome
Primarily affects male infants
Results in defective copper transport within the body
Leads to low copper levels in the blood, liver, and brain
Causes reduced activity of copper-dependent enzymes
Copper may accumulate abnormally in kidneys
Impairs essential functions such as brain development, metabolism, blood vessel formation, immunity, and wound healing
Characteristic clinical sign: coarse, kinky (crinkly) hair (“kinky hair disease”)
Common symptoms include seizures, hypotonia, developmental delay, and failure to thrive
Estimated incidence is 1 in 35,000 live male births
Early copper replacement therapy can reduce symptoms and prolong survival
Zycubo (copper histidinate) is the first FDA-approved treatment for pediatric Menkes disease
Without treatment, most affected children do not survive beyond 3 years