Gaucher disease type 2

Gaucher disease type 2, also called acute neuronopathic Gaucher disease or infantile cerebral Gaucher disease, is a very rare and severe inherited condition. It belongs to a group of diseases called lysosomal storage disorders. In Gaucher disease type 2, the body does not make enough of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside. Without enough of this enzyme, the fatty substance builds up inside cells throughout the body, especially in the brain, liver, spleen, and bone marrow. This buildup causes serious damage to many organs, but the brain damage is the most severe part of this condition. Babies with Gaucher disease type 2 usually appear healthy at birth but begin showing symptoms within the first few months of life. The brain and nervous system are severely affected, leading to problems with movement, swallowing, and breathing. The liver and spleen also become very enlarged. Unlike other types of Gaucher disease, the neurological damage in type 2 progresses very rapidly and cannot be stopped with currently available treatments. There is currently no cure for Gaucher disease type 2. Enzyme replacement therapy, which works well for type 1 Gaucher disease, does not cross into the brain and therefore cannot treat the neurological symptoms. Care is focused on keeping the baby as comfortable as possible and supporting the family. Research into new treatments, including gene therapy and substrate reduction therapy, is ongoing but has not yet produced an effective option for this form of the disease.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific mutations were found in my child's GBA1 gene, and what do they mean for the disease course?,Will enzyme replacement therapy help my child, and what symptoms can it realistically improve?,Are there any clinical trials or experimental treatments available that we should consider?,When should we involve a palliative care team, and what does palliative care look like for this condition?,What signs should prompt us to go to the emergency room immediately?,What support services — such as home nursing, respite care, or counseling — are available to our family?,What are the chances that future children we have could also be affected, and what prenatal testing options exist?

Common questions about Gaucher disease type 2

Related conditions

Other rare diseases commonly researched alongside Gaucher disease type 2.

• Gaucher disease type 1→
• GM1 gangliosidosis→
• Krabbe disease→
• Niemann-Pick disease type C→