GBAS
GBA Deficiency: A Comprehensive Guide
Description
GBA deficiency, also known as Gaucher disease, is a rare genetic disorder characterized by the buildup of fatty substances called glucosylceramide in various tissues and organs. This accumulation can lead to a range of symptoms and complications, depending on the type of GBA deficiency and the organs affected.
There are three main types of GBA deficiency:
- Type 1 (non-neuronopathic): The most common type, affecting adults and causing liver and spleen enlargement, bone disease, and low blood platelets.
- Type 2 (acute neuronopathic): A severe form affecting infants and young children, leading to neurological damage and often fatal within a few years.
- Type 3 (subacute neuronopathic): An intermediate form, affecting children and adolescents with a slower progression of neurological symptoms compared to Type 2.
Associated Diseases
GBA deficiency is associated with an increased risk of developing certain diseases, including:
- Parkinson's disease
- Alzheimer's disease
- Lewy body dementia
- Multiple system atrophy
Did you Know ?
Approximately 1 in 100,000 people worldwide have GBA deficiency. However, it is more common in certain populations, such as Ashkenazi Jews, where it affects around 1 in 10,000 people.
