Galactosylceramidase deficiency disease, also known as Krabbe disease, is a rare genetic disorder characterized by the absence or significant reduction of the enzyme galactosylceramidase. This lysosomal storage disorder primarily affects the nervous system and leads to the accumulation of harmful substances, particularly galactosylceramide, in the tissues.
Galactosylceramidase is responsible for breaking down galactosylceramide, a lipid molecule found in the myelin sheath surrounding nerve fibers. In individuals with galactosylceramidase deficiency, the buildup of galactosylceramide compromises the integrity and function of the myelin sheath. As a result, nerve cells are unable to transmit signals effectively, leading to the progressive destruction of the nervous system.
The symptoms of galactosylceramidase deficiency disease usually appear in early infancy, with affected infants experiencing weakness, muscle rigidity, irritability, seizures, and developmental delays. As the disease progresses, there may be vision and hearing loss, difficulty swallowing and breathing, and cognitive decline. The severity and progression of symptoms can vary widely among affected individuals.
The condition is caused by mutations in the gene that provides instructions for making the galactosylceramidase enzyme, leading to reduced or absent enzyme activity. Galactosylceramidase deficiency disease follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the defective gene, one from each parent.
There is currently no cure for galactosylceramidase deficiency disease. Treatment mainly focuses on managing symptoms and providing supportive care to improve the quality of life for affected individuals. This may involve medications to alleviate pain and seizures, physical therapy to
