What causes gauchers disease?

Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher.

Which enzyme is deficient in Gaucher disease?

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver.

What are the symptoms of gauchers disease?

What are the symptoms of Gaucher disease?

  • Enlarged spleen.
  • Enlarged liver.
  • Eye movement disorders.
  • Yellow spots in the eyes.
  • Not having enough healthy red blood cells (anemia)
  • Extreme tiredness (fatigue)
  • Bruising.
  • Lung problems.

How serious is Gaucher disease?

Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue.

What kind of disease is Gaucher disease type 2?

GAUCHER DISEASE (GD) – Type 2 ALTERNATE NAMES Gaucher Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Gaucher Syndrome Type 2

How does Gaucher disease affect the spleen and liver?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

Can a person have Gaucher disease at any age?

Symptoms can appear at any age. There are different types of Gaucher disease, and signs and symptoms of disease vary widely, even within the same type. Type 1 is by far the most common. Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.

How is Gaucher disease treated at the Mayo Clinic?

An enzyme that breaks down these fatty substances doesn’t work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.

Share this post