Gaucher Disease, Type 2
What is Gaucher disease, type 2?
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterised by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).
Gaucher disease, type 2 is a subtype of Gaucher disease.
As in other types of Gaucher disease, signs and symptoms of type 2 include enlargement of the liver and spleen (hepatosplenomegaly). Type 2 is known as the acute neuroneopathic form of the disease because the central nervous system is also affected, causing progressive brain damage, seizures, paralysis of the eye muscles, abnormal muscle tone, and choking spells. These signs and symptoms first appear in infancy. People with type 2 Gaucher disease usually live only into early childhood.
How common is Gaucher disease, type 2?
This rare condition is seen in fewer than 1 in 500,000 births. Unlike type 1, type 2 Gaucher disease is not more frequent in the Ashkenazi (central and eastern European) Jewish population.
What genes are related to Gaucher disease, type 2?
Mutations in the GBA gene cause Gaucher disease, type 2.
Mutations in the GBA gene lead to extremely low levels of an enzyme called beta-glucocerebrosidase. This enzyme usually breaks down a lipid called glucocerebroside into a sugar (glucose) and a simpler fat molecule. Without functional beta-glucocerebrosidase, glucocerebroside can build up in the body's cells. The abnormal accumulation of this substance damages tissues and organs, causing the characteristic features of Gaucher disease.
How do people inherit Gaucher disease, type 2?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
What other names do people use for Gaucher disease, type 2?
* Acute cerebral Gaucher's disease
* Gaucher disease, acute neuroneopathic type
* Gaucher disease, infantile cerebral
* Gaucher's disease, type II
* GD II
* Glucocerebrosidase deficiency type II
* Glucosylceramidase deficiency, acute type
* Infantile cerebral Gaucher's disease
* Infantile Gaucher Disease
* Type 2 Gaucher Disease
