He Menkes syndrome It is a rare disease. It is also called curly hair disease or Menkes' curly hair syndrome, since fragile and curly hair is one of its symptoms.
It is a genetic disease with an incidence of a case among 300,000 babies born. It occurs when a defect in the X-linked ATP7A gene causes a failure in the transport and absorption of copper, causing a deficit of copper in the brain and liver and an excess in kidneys and intestines.
We have to thank once again the progress of science for the detection of this type of rare diseases, as it has been published in The New England of Journal Medicine a group of researchers from the National Institutes of Health of the United States are working on a blood test that will detect Menkes syndrome in newborns.
Let's see how this terrible disease affects. The lack of copper in the baby's organism affects bones, brain, tissues, arteries and hair. The child may have a normal appearance at birth since the disease is usually detected between the second and third month of life.
Some of the symptoms of the disease include hypothermia, lack of muscle tone (hypotonia), seizures, mental retardation and feeding difficulties.
There is no curative treatment of the disease, but at least an early detection as soon as the baby is born will help the treatment be applied as soon as possible to avoid further complications in the baby.
In Menkes Disease blog you will find first-hand information about the syndrome, as it has been created by parents in Barcelona who have their experience there with their son Gerard.
