Thelansis

  Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile, and adult forms. Etiology- Krabbe disease is caused by changes (mutations) in the GALC gene. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down a certain type of fat that is primarily found in the brain and kidneys. Mutations in the GALC gene lead to reduced levels of the galactosylceramidase enzyme which can cause a build-up of toxic fats in the cells of the brain and other tissues. Rarely, infantile Krabbe disease is caused by a mutation in the prosaposin (PSAP) gene (10q21-q22), encoding sphingolipid activator protein saposin-A, necessary for GALC activity. Epidemiology- It has an estimated prevalence of 1/100,000 in the Northern European population (higher in certain populations) and a worldwide incidence of 1/100,000-1/250,000 live births. The infantile fo...