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?
b) UDP-glucose uridyl transferase
c) Debranching enzyme
d) Glucuronyl transferase
e) Glycogen Synthase
f) Glucose 6 phosphatase