The premature death of a baby in Volos, who is only 22 months old, who suffered from Krabble disease, is a cause of sadness. What is this rare condition?
Shock his news causes a stir in the local community of Volos premature death of a 22-month-old child suffering from Krabbe’s disease.
In particular, according to The Newspaper.grthe child suffered from this rare disease, he was hospitalized for several days in the Volos Hospital, but on Saturday (19/10) he breathed his last, leaving his family in mourning.
What is Krabbe disease?
OR Krabbe’s disease it is a rare and usually fatal disorder of the nervous system. It is an inherited genetic disease. People with Krabbe disease are unable to produce sufficient amounts of a substance called GALC, which is necessary for the formation of the myelin sheath. Myelin is the material that surrounds and protects nerve cells. Without this protection, nerve cells in the brain will die and nerves in the brain will not function as well as other parts of the body normally.
Krabbe disease is mostly seen in infants (starting under 6 months of age), but it can also occur later in life. Unfortunately there is no cure for Krabbe disease and most infants with the disease die before the age of two.
Krabbe disease is a genetic, hereditary disorder. It is caused by a genetic mutation – a permanent change in the DNA sequence of a particular gene. The mutation affects the signal that the gene sends to the body’s cells.
The disease gene is located on chromosome 14. A child must have inherited an abnormal gene from both parents to develop the disease. The abnormal gene results in the shortening of an important enzyme needed by the body called GALC.
The body needs GALC to make and maintain myelin, the substance that surrounds and protects nerve cells. In people with Krabbe disease who do not have GALC, substances called galactolipids build up in the brain. Galactolipids are stored by cells called spheroid cells. For this reason, Krabbe disease is sometimes called spheroid leukodystrophy.
There are two types of the disease:
- Early onset occurs in infants in the first months after birth, usually before six months of age.
- Late onset occurs later in childhood or early adolescence.