Question

Gaucher's disease is associated with:
A. Abnormal protein metabolism
B. Abnormal carbohydrate metabolism
C. Abnormal fat metabolism
D. Malnutrition

Answer 1

Hint: Gaucher (go-SHAY) disease is the result of a build-up of certain fatty substances in specific organs, especially the human liver and spleen. This causes these organs to enlarge and can affect their features.

Complete step-by-step answer:
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas such as the liver, spleen, and bone marrow which causes organ inflammation and dysfunction. A person will get Gaucher Disease if both father and mother are carriers of the disease. It is one of the most widespread lysosomal storage disorders. Gaucher disease is caused by an enzyme called low levels of glucocerebrosidase (GCase), which breaks down a fatty chemical in the body known as glucocerebroside. Gaucher cells are normal scavenger cells known as macrophages that become full of untreated glucocerebroside. The effects of Gaucher disease can have on the body can differ significantly from human to human. Some people experience severe Gaucher disease symptoms such as easy bruising, swollen belly, bleeding that is difficult to stop, anaemia, bone pain, and fatigue while others have none at all. Treating Gaucher’s disease reduces symptoms and permanent harm to the human body. TTwo kinds of Gaucher disease treatments are currently available: substrate reduction therapy (SRT) and enzyme replacement therapy (ERT).
Therefore the correct answer is Option C.

Note: Gaucher disease can affect anyone, and occurs in up to 1 in 40,000 live births in the general populace. Gaucher disease is more common among Jews of Ashkenazi (Eastern European) descent and occurs in about 1 in 450 within this population. As many as 1 in 10 may carry the mutated gene liable for Gaucher disease.