Menkes Disease Clinic

Menkes disease is a rare condition caused by variants in a gene (ATP7A) that regulates the body’s ability to metabolize copper. Although copper is present in only very small amounts in the body, it is key to the production of red blood cells and the health and functioning of nerve cells and the immune system. Copper also helps form collagen, a fundamental part of bones and connective tissue.

Symptoms of Menkes Disease

Menkes disease primarily affects male infants, who appear healthy until about six to eight weeks after birth, when symptoms begin to develop. Symptoms vary from person to person but can include:

• Floppy muscle tone
• Seizures
• Failure to thrive (slow physical development)
• Unstable body temperature
• Colorless, sparse, tangled hair
• Weakened bones (osteoporosis)

Some people with Menkes disease have a less severe form of the condition called occipital horn syndrome, which appears in early to middle childhood. People with this syndrome have wedge- or horn-shaped calcium deposits near the occiput, a bone at the base of the skull, as well as coarse hair and loose skin and joints.

While there is currently no complete cure for Menkes disease, treatment with copper histidinate beginning very early in life can reduce symptoms and prolong life.

Diagnosing Menkes Disease

If your child’s doctor suspects Menkes disease, he or she will assess your child for characteristic symptoms during a physical exam and discuss the family history. Diagnostic tests may include:

• Blood tests to determine levels of copper and ceruloplasmin (a protein that carries copper) in the blood, as well as catecholamines, neurochemicals that help regulate muscle movement and emotion.
• A CT scan or X-ray to look for small, twisted (wormian) bones in your child’s skull, which develop when a lack of copper causes defects in connective tissue
• A brain MRI scan to evaluate brain structure
• A brain wave test (electroencephalogram or EEG) to assess possible seizure activity.
• A skin biopsy, which can show how well your child’s body processes copper
• An ultrasound to check for outpouches (diverticula) in the bladder, which are common in people with the condition
• A urine test to measure levels of neurochemical metabolites (HVA/VMA); levels vary based on the activity level of a copper-dependent enzyme.

Care at Columbia

Menkes disease was discovered at Columbia in infants admitted to the Babies Hospital (now NewYork-Presbyterian/Morgan Stanley Children’s Hospital) and described in a 1962 paper in Pediatrics. Because Menkes disease is rare, it’s important that your child receive care from a team of physicians who have expertise in both diagnosing and managing the array of symptoms associated with the condition. Dr. Stephen Kaler, who recently joined Columbia to develop gene therapy for this and other inherited pediatric illnesses, has established a Menkes Disease Clinic at NYP/Morgan Stanley Children’s Hospital. He is a physician-scientist and human geneticist with 30 years of clinical and basic research experience with this condition.

Dr. Kaler and his team offer comprehensive clinical, biochemical, molecular, andneuroradiologic evaluations to infants and children affected with the disease.

At Columbia, we devote special attention to the full range of complications for which infants and children with Menkes disease may be at risk. Through the clinic your child can see experts who specialize in the neurodevelopmental, nutritional, gastrointestinal, cardiac, pulmonary, renal, and urological problems that may arise.

Our team can help identify resources to assist parents in meeting each child's unique needs and can link families with medical, educational, and psychosocial support services.

Our staff will maintain a working relationship with your child’s primary care physician.

We may offer eligible patients opportunities to participate in FDA-approved clinical protocols and trials of experimental therapies for Menkes disease. These might include studies to evaluate treatments such as copper histidinate, Northera, and ATP7A viral gene therapy.

The broad, overarching goal of our clinical and research effort is to improve the lives of children and families impacted by Menkes and work toward the day when treatment of this difficult illness is more complete.