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In the context of metabolic disorders, which of the following statements about Gaucher's disease is true?
It involves deficiency of hexosaminidase A
It is associated with the accumulation of glucocerebrosides
It is an autosomal dominant disorder
It primarily affects male patients
The correct answer is: It is associated with the accumulation of glucocerebrosides
Gaucher's disease is indeed characterized by the accumulation of glucocerebrosides, which are a type of lipid. This accumulation occurs due to a deficiency of the enzyme glucocerebrosidase, which is essential for the breakdown of glucocerebrosides into glucose and ceramide. The insufficient activity of this enzyme leads to the build-up of glucocerebrosides in various organs, particularly the spleen, liver, and bone marrow, resulting in the clinical manifestations associated with the disease such as splenomegaly, hepatomegaly, bone pain, and other systemic complications. Understanding why this statement holds true emphasizes the biochemical basis of Gaucher's disease. The role of glucocerebrosidase in metabolism is crucial, and its deficiency in Gaucher's disease is what distinguishes this condition from others. The other statements do not accurately depict Gaucher's disease's pathology or genetic nature. Specifically, the disease is not associated with a deficiency of hexosaminidase A, which is linked to Tay-Sachs disease, and it is inherited in an autosomal recessive pattern rather than being autosomal dominant. Additionally, the condition affects both males and females, disproving any notion of it primarily affecting male