Can people with Gaucher disease have children?
If one parent has Gaucher Disease and the other parent is a Gaucher carrier, there is a 50% chance of having a child who inherits a “Gaucher gene” from each parent, and thus has Gaucher Disease. There is also a 50% chance of having a child who only inherits the “Gaucher gene” from one parent, and becomes a carrier.
Does Gaucher disease cause weight gain?
Diet as part of overall care for Gaucher disease People with GD may be at higher risk for certain medical issues, and a nutritious diet can keep them on a healthy path. Weight gain: People often gain weight after starting ERT, which can lead to an increase in fatty liver and a risk of developing fatty liver disease.
Who is most likely to get Gaucher disease?
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
How is Gaucher inherited?
Is Gaucher disease inherited? Gaucher disease is inherited in families in an autosomal recessive manner. Normally, a person has two copies of the genes that provide instructions for making the enzyme, glucocerbrosidase. For most individuals, both genes work properly.
What kind of pain does Gaucher disease cause?
Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly and bruising and bleeding problems. There are three types of the disease.
Is there a cure for Gaucher disease type 1?
Gaucher disease type 1 is treatable, but there is no cure. For some people, symptoms are mild. Other people experience severe bruising, fatigue and pain, especially in the bones and belly. Symptoms can appear at any age, from childhood to adulthood. Gaucher disease type 2: A rare form of the disorder, type 2 appears in babies under six months old.
How is Gaucher disease an autosomal recessive disease?
Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene. [1] [3] Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). [3] This table lists symptoms that people with this disease may have.
What is the Nord physician guide for Gaucher disease?
The NORD Physician Guide for Gaucher disease was developed as a free service of the National Organization for Rare Disorders (NORD) and it’s medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.