The local community of Volos was saddened by the news of the death of a baby, only 22 months old, who suffered from Krabbe disease and breathed his last yesterday Saturday (19.10.2024).
The child, who suffered from the rare and fatal Krabbe disease, was hospitalized for several days at the Volos Hospital. After the efforts of the doctors, the baby finally ended, plunging his family into mourning, according to TheNewsPaper.gr.
What is Krabbe disease?
Krabbe disease 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 as well as in other parts of the body will not function normally.
Krabbe disease is mostly seen in infants (onset by age 6 months), 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, inherited disorder. It is caused by a genetic mutation – a permanent change in the DNA sequence of a particular gene. The mutation affects the signal the gene sends to the body’s cells.
The gene for Krabbe disease is located on chromosome 14. A child needs to have inherited an abnormal gene from both parents to develop the disease. The abnormal gene leads to the shortening of an important enzyme the body needs 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 lack 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.
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