Infantile Sandhoff disease is a rare, inherited and progressive genetic disorder that falls under the category of lysosomal storage diseases. It is characterized by the deficiency or absence of a specific enzyme known as hexosaminidase (Hex), which leads to the accumulation of harmful substances in the body's cells, particularly in the brain and nervous system.
Infantile Sandhoff disease primarily affects infants and presents itself within the first few months of life. Symptoms typically include developmental delays, progressive deterioration of motor skills, muscle weakness, and an overall decline in neurological function. Affected individuals also experience seizures, impaired vision, and hearing loss. As the disease advances, feeding difficulties, increased susceptibility to infections, and an enlarged liver and spleen may be observed.
This neurological disorder is caused by mutations in both copies of the HEXB gene, which provides instructions for producing the Hex enzyme. These mutations prevent the proper functioning of the enzyme, resulting in the buildup of substances called GM2 gangliosides. The accumulation of these substances leads to the destruction of nerve cells in the brain and spinal cord.
Unfortunately, there is currently no cure for infantile Sandhoff disease, and treatment remains supportive and symptomatic. Physical therapy and other supportive measures can help manage some of the symptoms and delay the disease's progression. However, the condition is usually severe and has a rapid course, often leading to early death, typically within the first few years of life.
