Q LM-03: About Gaucher’s Disease

Question LM-03

 

                                      

 

A Russian Jewish mother presents to your office with a very pale child. The physical exam shows massively enlarged liver and spleen and extensive skeletal disease. Lab exams show anemia and low blood platelets.

 

Because of your findings and the fact that the child is an Ashkenazi Jewish girl, you suspect it could be a Gaucher Disease, so you refer the patient for a liver biopsy.

 

You expect that the results of the biopsy will confirm your diagnosis of this autosomal recessive disorder, and thus, it will  show an accumulation of sphingolipids in liver cells, as a consequence of a deficit of :

 

a)     a cytosol enzyme

 

b)     a lipoprotein lipase

 

c)      a liver hormone sensitive lipase

 

d)     a lysosomal enzyme

 

e)     a mitochondrial enzyme

 

f)       a peroxisomal enzyme