Acute Neuronopathic Gaucher Disease, also known as acute neuropathic Gaucher disease, is a rare, inherited, and progressive lysosomal storage disorder (LSD) caused by mutations in the glucocerebrosidase (GBA) gene. This disorder affects primarily the nervous system, especially the brain and spinal cord.
The GBA gene provides instructions for producing an enzyme called glucocerebrosidase, which is responsible for breaking down a fatty substance called glucosylceramide. In individuals with Acute Neuronopathic Gaucher Disease, mutations in the GBA gene lead to a deficiency or malfunctioning of glucocerebrosidase, resulting in the accumulation of glucosylceramide in various cells throughout the body, particularly in the neurons of the brain.
As a result, affected individuals start experiencing symptoms early in life, typically within the first few months. Symptoms may include rapid and severe neurological impairment, such as developmental delay, muscular stiffness, seizures, difficulty swallowing and feeding, weak muscles, abnormal eye movements, poor coordination, and progressive brain damage. Other features may include an enlarged liver and spleen, impaired vision, hearing loss, and respiratory problems.
Acute Neuronopathic Gaucher Disease is considered the most severe and rapidly progressing form of Gaucher disease. It is often fatal in early childhood due to the extensive damage caused to the central nervous system.
A diagnosis of Acute Neuronopathic Gaucher Disease is usually made based on clinical symptoms, biochemical tests, genetic analysis, and imaging studies. Treatment options are limited, but supportive care, including physical therapy, seizure management, and palliative measures, can help alleviate some of the symptoms and improve quality of life. Research is ongoing to explore potential therapies and disease-modifying treatments for
