Krabbe disease results from an abnormality that affects the of nerve cells in the brain

Krabbe disease is an autosomal recessive disorder which is also called globoid cell leukodystrophy. Krabbe disease results from an abnormality that affects the myelin sheath of nerve cells in the brain.

This disorder leads to a deficiency of important enzyme galactosylceramidase (GALC) and its deficiency leads to demyelination of nerve cells.  

Myelin sheath is important for rapid conduction of nerve signal and demyelination cause interruption in a signaling pathway which leads to Krabbe disease.

This disease affects the central and peripheral nervous system and causes difficulty in moving, eating, breathing, swallowing and doing other physical works.

in situ hybridization has been widely used for research applications, including clinical cytogenetics, gene mapping, tumor biology and studies of chromosome evolution.

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