A type of sphingolipidosis that is often caused by a deficiency in galactocerebrosidase resulting in the accumulation of glycolipids, particularly galactocerebroside, in oligodendrocytes, and thereby affecting the myelin sheath of the nervous system
Sphingolipidosis is a collective term for the various metabolic disorders due to an abnormal sphingolipid metabolism. One of them is the Krabbe disease.
Krabbe disease is a metabolic disorder caused by the accumulation of glycolipids (particularly galactocerebroside) in the lysosomes of oligodendrocytes. The buildup of this lipid affects the growth of myelin sheath of nerves. Thus, this condition is characterized by demyelination. The accumulation is due to a deficiency of a functional lysosomal enzyme, galactocerebrosidase. In humans, this enzyme is encoded by the GALC gene located on chromosome 14. The function of this enzyme is to remove galactose from the ceramide derivatives, such as galactocerebrocides. Thus, mutation in the gene resulting in the deficiency of galactocerebrosidase is associated with the manifestation of Krabbe disease. The disease is an autosomal recessive.
The symptoms of Krabbe disease are spasticity, hypertonia, hyperreflexia, decerebration-like posture, blindness, deafness, and neurodegeneration, which may be fatal.
The disease is named after Knud Haraldsen Krabbe (a Danish neurologist).