INFORMATION ON KRABBE DISEASE:-

Krabbe disease may be defined as a inherited disorder characterized by a deficiency of the enzyme called galactocerebroside beta-galactosidase (galactosylcereamidase). Deficiency of this enzyme leads to the death of brain cells, a process that underlies the symptoms seen in Krabbe.

CAUSES OF KRABBE DISEASE:-

The main factors which leads to the involvement Krabbe disease are:-

1. feeding problems.
2. and failure to thrive,
3. unexplained fever.
4. vomiting.

SYMPTOMS OF KRABBE DISEASE:-

1. Infantile irritability and sensitivity to loud sounds
2. Feeding difficulties
3. Vomiting
4. Failure to thrive
5. Unexplained fevers
6. Changing muscle tone from floppy to rigid
7. Seizures, deterioration in function of nerves in brain and body
8. Infant who ceases to follow faces or motion.
9. Decreased hearing that progresses to deafness.

DIAGNOSIS OF KRABBE DISEASE:-

Clinically Krabbe disease can be diagnosed by:-

1. Galactocerebroside beta-galactosidase levels in white blood cells
2. CSF total protein.
3. MRI.
4. Genetic testing for mutations

TREATMENT OF KRABBE DISEASE:-

At present there is no way to stop Krabbe disease or cure it once it is in full swing. However, if an individual is diagnosed before symptoms begin, or symptoms start later in life and progress slowly, it is possible to use bone marrow or stem cell transplantation as treatment. The transplant adds normally-functioning cells which can produce GALC.