Krabbe disease ( Galactosylcerebrosidase deficiency) - An infant rare disease

This is a rare disease seen in one among 150,000 infants. Krabbe disease is other wise known as Globoid cell leukodystrophy or Galactosylcerebrosidase deficiency or Galactosylcereamidase deficiency. The disease is usually inherited and the brain of patients with this disease dies slowly due to lack of enzyme called galactocerebroside beta-galactosidase or galactosylcereamidase. Krabbé disease affect both central and peripheral nervous system. It is one of the genetic disorders that comes in the group leukodystrophies. Patients with this disease has cells with more than one nucleus, protection to nerve cells given by myelin sheath is disturbed, because its growth and development are blocked and brain cells are destroyed.

Causes

Krabbe disease mostly affect infants of Scandinavian descent and is inherited. Due to the absence of certain enzymes myelinated neurons get destroyed causing progressive damage of nervous system. This occurs to persons with GALC gene. Such persons will not be able to produce galactocerebroside beta-galactosidase. This substance makes myelin that protects nerve fibres. If not protected myelin gets desroyed resulting in destruction of brain cells and destroying the working of nerves all over body.

Symptoms

It may attack with in the first month of birth of child. Then feeding gets difficult and child gets fever frequently and at times vomiting. There might not be reason for fever and vomiting. Growth deteriorates. Muscle tone changes and there might be severe seizures. Infant loses power to hear and see and assumes a position called decerebrate posturing which is rigid. With in two years baby dies. Children may be affected during late childhood or even adolescents may be affected. In the beginning problem with sight slowly becomes blindness. Rigidness of muscle and difficulty to walk are other symptoms.

Treatment

There is no treatment for this disease. If the disease is detected in early stages born marrow transplantation may be useful. Usualy treatment is done for symptoms and these medications can not cure or repair damaged brain cells. Physical therapy is done to improve the strength of muscles. Anticonvulsant medicines can be given to reduce seizures.

Occupational therapy is also helpful for children to learn to do routine things like brushing teeth. Cord blood transfusion also might help in early stages. Bone marrow transplantation can be done only to those older children with mild symptoms and to infents whose disease is detected on birth. Another treatment is transfusion of stem cells in blood, taken from umbilical cord of donors who are related.

In some cases it was tried to transfuse healthy donor cells along with GALC into babies who have a chance for Krabbe genetically. It is found useful as normal formation of myelin is stimulated. But the treatmentmust be done before development of symptoms. But in due time difficulty may be found in walking. Gene therapy may be found useful in future. Original gene will be replaced by a functional gene injucted in to cells by way of a virus.

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