Gaucher Disease is a rare genetic disorder resulting from a deficiency of the enzyme several glucocerebrosidase, leading to the accumulation of harmful substances in certain organs and tissues. This accumulation primarily affects the spleen, liver, and bone marrow. Gaucher Disease has three types, with Type 1 being the most common and Type 2 and Type 3 being more severe.

Causes 

• Genetic mutation: Gaucher Disease is caused by mutations in the GBA gene, which encodes the enzyme glucocerebrosidase. This enzyme is crucial for breaking down a fatty substance called glucocerebroside.
• Inheritance: The disease is inherited in an autosomal recessive manner, meaning a child must inherit two defective copies of the GBA gene (one from each parent) to develop the disease.

Types of Gaucher Disease 

1. Type 1 (Non-neuronopathic): Most usual form. Symptoms: Enlarged liver and spleen (hepatosplenomegaly), anemia, low platelet count (thrombocytopenia), bone pain and fractures. Onset: Can occur at any age, including childhood.
2. Type 2 (Acute Neuronopathic): Severe and rapidly progressive. Symptoms: Severe neurological impairment, including seizures, brain damage, and difficulty swallowing. Onset: Infancy, often fatal by early childhood.
3. Type 3 (Chronic Neuronopathic): Intermediate severity. Symptoms: Like Type 1 with additional neurological symptoms such as eye movement disorders, cognitive impairment, and seizures. Onset: Childhood or adolescence.

Symptoms 

• Hepatosplenomegaly: Enlarged liver and spleen, causing abdominal pain and distension. 
• Bone disease: Bone pain, fractures, and growth delays.
• Hematologic issues: Anemia, easy bruising, and frequent nosebleeds due to low platelet count.
• Neurological symptoms (Type 2 and 3): Seizures, brain damage, and eye movement abnormalities.

Image credit: Content credentials Generated with AI ∙ July 2, 2024 at 6:53 AM