This condition is caused by mutations in the GBA gene. These mutations interfere with the production of an essential enzyme called glucocerebrosidase, which is responsible for breaking down glucosylceramides. Without this enzyme, harmful substances build up in organs like the brain, liver, spleen, and bone marrow, leading to widespread damage.

Gaucher Disease

Type 2 Gaucher disease, also known as acute neuronopathic Gaucher disease, is a severe and rare genetic condition. It disrupts the body’s ability to break down certain fatty substances, leading to a buildup of glucosylceramides in vital organs and tissues. This accumulation causes significant damage, particularly to the brain, and progresses rapidly in infants and young children.

Symptoms of Type 2 Gaucher disease usually appear within the first few months of life. These may include severe neurological problems such as brain damage and frequent seizures. Children often experience developmental delays, bone abnormalities, and organ enlargement—particularly of the liver and spleen. Difficulty with eye movement, feeding challenges, and trouble swallowing are also common indicators.