Gaucher’s disease is linked with
Correct Answer :
abnormal fat metabolism
Solution :
The correct answer is abnormal fat metabolism.
Step-by-step Explanation:
1. Understanding Gaucher's Disease:
Gaucher’s disease is a rare, inherited metabolic disorder. It belongs to a group of diseases known as lysosomal storage disorders. In these disorders, the lysosome (the recycling center of the cell) is unable to break down specific substances due to a missing or deficient enzyme.
2. The Enzyme and Lipid Involved:
Specifically, Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). Under normal metabolic conditions, this enzyme breaks down a complex lipid (fatty substance) called glucocerebroside (glucosylceramide) into glucose and ceramide.
3. Mechanism of Accumulation:
When glucocerebrosidase enzyme activity is deficient, glucocerebroside cannot be metabolized properly. As a result, this fatty substance accumulates in the lysosomes of macrophages (specialized immune cells). These lipid-laden macrophages are called "Gaucher cells."
4. Impact on Organs:
Gaucher cells accumulate primarily in the spleen, liver, and bone marrow, leading to common symptoms such as splenomegaly (enlarged spleen), hepatomegaly (enlarged liver), anemia, and bone complications.
5. Conclusion:
Because glucocerebroside is a type of sphingolipid (a class of lipids/fats), the inability to break it down represents a direct defect in lipid metabolism. Therefore, Gaucher's disease is fundamentally linked with abnormal fat metabolism.
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