Definition
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain.
Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3 to 5 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 and causes it to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
Risk Factors
A risk factor is something that increases your chance of getting a disease or condition. Risk factors for Menkes syndrome include:
- Sex: male
- Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth and may include:
- Seizures
- Brain degeneration and developmental delay
- Hypotonia (“floppy” muscle tone)
- Hypothermia
- Osteoporosis
- Failure-to-thrive
Babies with Menkes syndrome often exhibit the following physical characteristics:
- Hair that is stubby, tangled, sparse, lacking in color, and easily broken
- Chubby cheeks
- Flattened bridge of the nose
- Face lacking in expression
Diagnosis
The following tests may be done to diagnose Menkes syndrome:
- X-ray of the skull and skeleton to look for abnormalities in bone formation
- Blood tests to measure copper levels
Treatment
There is no cure for Menkes syndrome. Early treatment with intravenous copper acetate, oral copper supplements, or injections of copper histidinate may provide temporary benefit. Other treatments may be used to relieve symptoms.