Gaucher Disease Type 3
Description
Gaucher disease type 3, also known as the ‘acute neuronopathic‘ form, is a rare and serious genetic disorder. This article provides a comprehensive overview of Gaucher disease type 3, including its causes, symptoms, diagnosis, management, and strategies for thriving.
Genes Involved
Gaucher disease type 3 is caused by mutations in the GBA1 gene. This gene provides instructions for making an enzyme called glucocerebrosidase. This enzyme is essential for breaking down a fatty substance called glucocerebroside. When the GBA1 gene is mutated, glucocerebrosidase cannot function properly, leading to an accumulation of glucocerebroside in various tissues and organs.
Recognizing the Signs and Symptoms
Gaucher disease type 3 presents with a wide range of symptoms, often appearing in infancy. These can include:
- Neurological issues: Seizures, developmental delays, hypotonia (low muscle tone), and movement problems.
- Skeletal abnormalities: Bone pain, fractures, and joint stiffness.
- Hepatosplenomegaly: Enlarged liver and spleen.
- Vision problems: Retinopathy and optic atrophy.
- Other symptoms: Anemia, bleeding disorders, and slow growth.
Causes
Gaucher disease type 3 is caused by mutations in the GBA1 gene. These mutations are inherited from parents who carry one copy of the mutated gene. If both parents carry the mutation, there is a 25% chance their child will inherit two copies and develop Gaucher disease type 3.
Inheritance/recurrence risk
Gaucher disease type 3 is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, each of their children has a 25% chance of inheriting the disease.
