INFORMATION ON GLOBOID CELL LEUKODYSTROPHY

Globoid cell leukodystrophy is a rare, inherited and often fatal degenerative disorder of the nervous system caused by a defect in chromosome 14. Doctors may also refer to this disorder as Krabbe's disease. Children with Globoid cell leukodystrophy have a deficiency of a specific enzyme, which leads to the destruction of myelin, a fatty substance that protects many nerves.

CAUSES OF GLOBOID CELL LEUKODYSTROPHY

Globoid cell leukodystrophy is caused by deficiency in the gene encoding the lysosomal enzyme galactosylceramidase (GALC).

SYMPTOMS OF GLOBOID CELL LEUKODYSTROPHY

The various symptoms shown by a subject suffering with Globoid cell leukodystrophy are:-

1. Irritability.
2. Feeding difficulties.
3. Change in muscles tone.
4. Failure to thrive.
5. Hearing loss.
6. Seizures.

DIAGNOSIS OF GLOBOID CELL LEUKODYSTROPHY

Clinically Globoid cell leukodystrophy can be identified by following examination:-

1. Physical examination of subject.
2. Blood test.
3. MRI.
4. CT scan.
5. Genetic testing.

TREATMENT OF GLOBOID CELL LEUKODYSTROPHY

So far there's no cure for Globoid cell leukodystrophy. Treatment for Globoid cell leukodystrophy typically directed on minimizing the signs and symptoms. The average life expectancy for infants diagnosed with this disorder is less than 2 years. However, some children with Globoid cell leukodystrophy may benefit from bone marrow transplant or umbilical-cord blood transfusion.