The parents of an 18-month-old girl are alarmed at the rapid deterioration in her motor skills and the appearance of an engorged belly. They note that when their daughter tries to follow the movement of an object she thrusts her head in the direction of movement as if she cannot move her eyes from side-to-side. Physical and laboratory examination reveals that the child is suffering from Gaucher disease. Which of the following carbohydratecontaining compounds would be expected to be elevated in macrophages from this patient?

Question

Quizplus · Accepted Answer

The Answer is B
EXPLANATION: Gaucher disease is characterized by the lysosomal accumulation of glucosylceramide (glucocerebroside) which is a normal intermediate in the catabolism of globosides and gangliosides. Gaucher disease results from defects in the gene encoding the lysosomal hydrolase: acid b-glucosidase, also called glucocerebrosidase. The hallmark feature of Gaucher disease is the presence of lipid-engorged cells of the monocyte/macrophage lineage with a characteristic appearance in a variety of tissues.

The Parents of an 18-Month-Old Girl Are Alarmed at the Rapid