Q: About Glycogen Storage Diseases (CM-01)


A 20 month-old male patient presents convulsions after a history of frequent morning fatigue before feeding. RBS (Random Blood sugar) shows 25 mg % and the hypoglycemia is treated accordingly. At the physical exam it is found a liver span of 14 cm and a grade III systolic murmur.

The patient is hospitalized for further study.  ECG shows a left ventricular hypertrophy.  While hospitalized, blood test show normal RBS, but elevated ALT (alanine aminotransferase), AST (aspartate aminotransferase), GGT (gamma glutamyltranspeptidase) and Creatin Kinase.  

Given the history of the case a Glycogenosis storage disease was suspected and specific test were indicated. The following results were obtained:

– during a fasting challenge the time to hypoglycemia was 3 hour 

– blood glucose increased after the administration of glucagon 

-liver biopsy showed fibrosis with glycogen filled hepatocytes. 

With this information, which of the following enzymes activity do you expect to find decreased in this patient  hepatocytes? 

a)     phosphoglucomutase

b)     UDP-glucose uridyl transferase

c)      Debranching enzyme

d)     Glucuronyl transferase

e)     Glycogen Synthase 

f)   Glucose 6 phosphatase   

  

  Answer

 

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