Genetics

What is Menkes Disease?

Menkes disease, also known as Menkes syndrome or “kinky hair disease,” is a rare genetic disorder that affects the body's ability to regulate copper levels. This condition impacts the nervous system and connective tissues, leading to developmental and physical issues. Menkes disease is typically diagnosed in babies.

Menkes is a serious disorder that can shorten a child’s lifespan. However, early intervention--often with copper injections--can make a difference in managing a child’s symptoms, extending their survival, and improving their day-to-day life.

Signs & Symptoms of Menkes Disease

Symptoms of Menkes disease typically start within the first few months of life and may include:

• Sparse, crinkly, and lightly pigmented hair
• Failure to thrive
• Developmental delays
• Seizures
• Weak muscles
• Feeding difficulties
• Skeletal abnormalities
• Intellectual disability
• Low body temperature
• Progressive neurological degeneration

What Causes Menkes Disease?

Menkes disease is caused by mutations in the ATP7A gene, which helps transport copper throughout the body. Copper is important for healthy brain development, connective tissue formation, and energy production. In people with Menkes disease, a defect in the ATP7A gene makes it harder for the body to absorb and distribute copper.

How is Menkes Disease Diagnosed?

Menkes diagnosis typically happens in infancy or early childhood. Diagnosing Menkes disease often involves a combination of clinical evaluation, genetic testing, and biochemical studies. Common diagnostic approaches include:

• Physical exam: Your child’s doctor will perform a physical exam to check for hair abnormalities and signs of neurological problems.
• Blood tests: Blood testing may be done to measure copper and ceruloplasmin (a copper-carrying protein) levels in the blood, which are typically low in children with Menkes disease.
• Genetic testing: Confirming a variant in the ATP7A gene to establish a diagnosis.
• Neuroimaging (MRI/CT scans): These scans can help identify problems in the brain, including structural changes and blood vessel abnormalities.

How is Menkes Disease Treated?

Early intervention for Menkes disease may help manage symptoms and quality of life. Treatment strategies include:

• Copper histidinate injections: In some cases, early administration of copper supplements may help ease symptoms and prolong survival.
• Supportive therapies: Physical therapy, occupational therapy, and speech therapy can help manage developmental delays and motor issues.
• Seizure management: Certain medications may be prescribed to help control seizures.
• Nutritional support: Special feeding techniques may be needed to help a child receive proper nutrients.
• Future gene therapy: To restore working copies of the ATP7A copper transport gene.

Prognosis

Menkes disease is a progressive disorder that can significantly shorten a child’s life span, with many not surviving past the age of three years. However, early detection and treatment with copper therapy may improve a child’s survival.

Although there is no complete cure for Menkes disease at present, researchers are conducting promising studies on how to better treat, manage, and screen for this illness. If your child or another loved one has Menkes disease, a support group for caregivers can provide community and resources to help you navigate this challenging diagnosis.

Trust NewYork-Presbyterian for Menkes Disease Treatment

The Children's Hospital of New York brings together multidisciplinary teams of experts to provide the highest level of care for children born with Menkes disease and other genetic disorders.

With access to NewYork-Presbyterian’s vast expertise and resources, we customize a plan of care to maximize the best possible outcomes for you and your child.