Children with the infantile form of the disease usually die within a year, but those who develop the disease later in life may survive for many years. The disease is most common among Ashkenazi (Eastern European) Jews.
Type 1 is a chronic form and is the most common one.
Type 2 is the infantile form usually causes death in the first year of life.
Type 3 is a juvenile form that can begin at any time during childhood.
Deposition of the fatty substances can occur in liver, spleen, lungs, bone marrow and, less commonly, brain. This can affect the normal functioning of the body, cause organ enlargement and bone pain. The disease can occur at any age. Treatment involves enzyme replacement.
Causes and Risk Factors of Gaucherís disease
Gaucherís disease arises due the lack of an enzyme called glucocerebrosidase. This enzyme normally breaks down fatty substances (lipids) called glucocerebrosides. The deficiency of the enzyme hence leads to the accumulation of lipids in different organs and tissues. The disease arises due to genetic mutations. More than 300 genetic mutations have been found to be associated with Gaucherís disease.
The disease is an inherited one that follows a pattern called autosomal recessive, i.e. both parents must be carriers of the genetic mutation that causes Gaucherís disease for their child to develop the condition.
The risk of developing Gaucherís disease or being a carrier increases if there is a family history of any type of Gaucherís disease. People of Eastern or Central European Jewish (Ashkenazi) ancestry are at high risk of having type 1 Gaucherís disease or being a carrier. Types 2 and 3 can occur in any ethnic group.
Latest Publications and Research on Gaucherís DiseaseLoss of Ŗ-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells. - Published by PubMed
[Pregnancy in Gaucher disease.] - Published by PubMed
Glucocerebrosidase inhibitors for the treatment of Gaucher disease. - Published by PubMed
Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review. - Published by PubMed
Screening of high-risk Gaucher disease patients using dried blood spots techniques. - Published by PubMed