Type: Autosomal Recessive; inherited genetic disorder
Symptoms: Easy bleeding and bruising, anemia, excessive fatigue, bone and joint pain, week bones fracturing too easily, and enlargement of the belly through increase in the volume of the spleen and liver
Mutated Chromosome: Carried on Autosomal chromosome number 1
Treatments: Enzyme replacement therapy (ERT); Substrate reduction therapy (SRT)
More Info
Gaucher Disease is the most common condition in a family of diseases known as lysosomal storage disorders. The non-working enzyme is called glucocerebrosidase, which helps the body break down a fatty substance stored inside the lysosome called glucocerebroside. Without sufficient enzyme activity, glucocerebrosede accumulates inside the lysosome and causes the cell to increase in size.
People with Gaucher Disease lack sufficient levels of a particular enzyme. As a result, a lipid accumulates in the body. Lipid accumulation may cause mild severe symptoms that could appear at any time throughout life, from infancy to adulthood. Symptoms are usually first notice in childhood or early adolescence.
