Gaucher's - danille

[ArchivalUser]

A 6-month-old boy with developmental delay is found to have hepatospenomegaly. Analysis of tissue obtained on biopsy of the liver shows unusually large amounts of glucocerebroside. Which of the following enzymes is most likely to be deficient?

A. Glucose-6-phosphatase
B. Lipoprotein lipase
C. Liver phosphrylase
D. Lysosomal hydrolase
E. Sphingolipid synthase
F. Tissue phospholipase

[ArchivalUser]

E,

[ArchivalUser]

yeah............its E......

[ArchivalUser]

I shouldn't have written the Gaucher's in the title. I got the diagnosis right, but had a hard time finding the enzyme: beta-glucosidase!

The answer is given is: d. Lysosomal hydrolase. This child has Gaucher's disease. It is one of the most prevalent lysosomal storage disease and is due to a deficiency of a lysosomal hydrolase, more specifically a glucocerebroside- beta-glucosidase. This results in accumulation of glucocerebroside in liver\bone marrow and spleen.