Gaucher Disease Type 2
Description
Gaucher Disease Type 2 is a rare and severe form of Gaucher disease, a genetic disorder that affects the body‘s ability to break down certain fats. This type is characterized by an early onset and rapid progression, leading to significant health challenges. In this blog, we‘ll delve into the details of Gaucher Disease Type 2, exploring its causes, symptoms, diagnosis, and management.
Genes Involved
Gaucher Disease Type 2 is caused by mutations in the GBA1 gene. This gene provides instructions for making an enzyme called glucocerebrosidase, which helps break down a fatty substance called glucocerebroside. Mutations in the GBA1 gene lead to a deficiency of this enzyme, causing a buildup of glucocerebroside, primarily in the brain and other organs.
Recognizing the Signs and Symptoms
Gaucher Disease Type 2 typically manifests in infancy. Symptoms include:**
- Delayed motor development: Babies may struggle to reach milestones like rolling over, sitting up, or crawling.
- Seizures: These are common and can be severe.
- Enlarged liver and spleen: This can cause abdominal swelling.
- Skeletal abnormalities: Bone pain and fractures are frequent.
- Feeding difficulties: Babies may have trouble feeding and gaining weight.
- Respiratory problems: Breathing difficulties can arise due to complications like lung infections.
- Eye abnormalities: Retinopathy, or damage to the retina, can occur.
Causes
Gaucher Disease Type 2 is inherited, meaning it‘s passed down through families. Individuals inherit two copies of the GBA1 gene, one from each parent. If a child inherits two mutated copies of the GBA1 gene, they will develop Gaucher Disease Type 2.
Inheritance/recurrence risk
Gaucher Disease Type 2 is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated GBA1 gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance for each pregnancy that their child will inherit Gaucher Disease Type 2.
