Menkes disease (patient information)

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What is Menkes disease?

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

What are the symptoms of Menkes disease?

• Bone spurs
• Brittle, kinky hair
• Feeding difficulties
• Irritability
• Lack of muscle tone, floppiness (hypotonia)
• Low body temperature
• Mental deterioration
• Pudgy, rosy cheeks
• Seizures
• Skeletal changes

What causes Menkes disease?

Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper.

Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.

Menkes syndrome is inherited, which means it runs in families.

Who is at risk for Menkes disease?

Menkes disease is a genetic disorder, so anyone with a family history of the disease is at risk.

How do I know I have Menkes disease?

There is often a history of Menkes syndrome in a male relative.

Signs include:

• Abnormal appearance of the hair under the microscope
• Abnormally low body temperature
• Bleeding in the brain
• Slow growth in the womb

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

• Serum ceruloplasmin
• Serum copper level
• Skin cell (fibroblast) culture
• X-ray of the skeleton or x-ray of the skull

Genetic testing may show a change (mutation) in the ATP7A gene.

When to seek urgent medical care

Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

Treatment options

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

Where to find medical care for Menkes disease

Directions to Hospitals Treating Menkes disease

What to expect (Outlook/Prognosis)

Most persons with this condition die within the first few years of life.

Possible complications

• Seizures
• Death

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm