Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in changes in the arteries and deterioration of the brain.

Menkes syndrome is rare. Most children born with Menkes syndrome have a life expectancy of < 4 years.

Causes

Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines. It causes copper deficiency in the liver and brain, but excess amounts in the kidney. This causes changes in the hair, brain, bones, liver, and arteries.

Risk Factors

Menkes syndrome is more common in males, and in those with a family history.

Symptoms

Children with Menkes are often born prematurely. Symptoms usually begin within 2-3 months after birth and may include:

  • Seizures
  • Difficulty feeding
  • Developmental delays and regression
  • Floppy muscle tone
  • Slow growth

Osteoporosis—Weakened Bone Matrix

Osteoporosis
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Babies with Menkes syndrome often exhibit the following physical characteristics:

  • Hair that is stubby, tangled, sparse, lacking in color, and easily broken
  • Chubby, rosy cheeks
  • Flattened bridge of the nose
  • Face lacking in expression
  • Pale skin
  • Small head
  • Weak and/or brittle bones

Diagnosis

The following tests may be done to diagnose Menkes syndrome:

  • Blood tests and biopsies to measure copper and ceruoplasmin levels
  • Many children can be diagnosed by genetic test of the ATP7A gene

Other testing may include:

  • X-ray of the skull and skeleton to look for abnormalities in bone formation
  • Microscopic examination of hair
  • Ultrasound to look for bladder diverticula or "out pouching"

Treatment

There is no cure for Menkes syndrome. Early treatment with IV copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.

Prevention

There is no known way to prevent Menkes syndrome. If you have a family history of the disorder, you can talk to a genetic counselor when deciding whether to have children.