(GIST OF SCIENCE REPORTER) Menkes Disease

(JANUARY-2026)

Menkes Disease

The U.S. Food and Drug Administration recently approved the Zycubo (copper histidinate) as the first treatment for Menkes disease in pediatric patients.

About Menkes Disease:

It is a genetic disorder that affects body’s ability to process copper.
It is caused by a mutation of the ATP7A gene located on the X chromosome. This ATP7A gene affects how the body transports copper and maintains copper levels.
While the body only uses a small amount of copper, even this tiny amount is required for many functions.
Copper helps with metabolism, brain functioning, blood vessel and blood cell formation, wound healing, and the immune system.
Copper also helps to convert iron into a usable form in the body.
It is naturally available in many foods and dietary supplements.
Menkes Disease usually causes low copper levels in blood plasma, the liver, and the brain.
The condition also reduces the activities of copper-dependent enzymes in the body.
Copper may accumulate in other tissues, such as the kidney.
Because the condition prevents the body from using copper correctly, Menkes disease can lead to serious damage to the brain and nervous system and can harm a child’s development.
It occurs mostly in male infants and is characterized by coarse, kinky hair (leading to its nickname of “kinky hair disease”), as well as failure to grow and thrive.
Symptoms: Symptoms include seizures, slow growth, floppy muscles, and kinky (crinkly) hair.

Treatment:

There isn’t a cure for Menkes disease, but early treatment with copper can help reduce symptoms and prolong life.
Treatment includes copper replacement injections (also known as a copper histidine compound) to increase the development of copper in your child’s body.
Without treatment, most Menkes disease patients do not survive past age 3.