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Menkes Syndrome Information

Menkes syndrome is a X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. The dieases is also known as kinky hair disease, menkes kinky hair syndrome, steely hair disease. Menkes syndrome is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone, sagging facial features, seizures, mental retardation, and developmental delay. The hair is stubby and white. Microscopically it shows twisting, varying diameter along the length of the shaft, and often fractures of the shaft at regular intervals. In rare cases, symptoms begin later in childhood and are less severe. It is a X-linked recessive disorder, therefore males have the disease, while females are carriers. It is transmitted as an X-linked recessive trait. Sufferers can not transport copper, which is needed by enzymes involved in making bone, nerve and other structures. Menkes syndrome is a progressive, genetic, neurodegenerative disorder of copper metabolism. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope. Babies with Menkes syndrome have a genetic disorder that causes copper 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. There is no cure for Menkes syndrome.

Causes of Menkes syndrome

The common causes and risk factor's of Menkes syndrome include the following:

  • A genetic disorder.
  • Family members with Menkes syndrome.

Symptoms of Menkes syndrome

Some sign and symptoms related to Menkes syndrome are as follows:

  • Pudgy, rosy cheeks.
  • Feeding difficulties.
  • Lack of muscle tone, floppiness ( hypotonia ).
  • Bone spurs.
  • Irritability.
  • Low body temperature.
  • Seizures.
  • Brain degeneration and developmental delay.

Treatment of Menkes syndrome

Here is list of the methods for treating Menkes syndrome:

  • Early treatment with intravenous copper acetate may provide temporary benefit.
  • Oral copper supplements.
  • Injections of copper histidinate may be used to relieve symptoms.


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