Clinical Presentations
Why did Albert have an abdominal protuberance and palpable liver edge? (What was the cause?)
Hepatomegaly due to increased glycogen storage in liver.
What is lactose converted into?
What serum glucose level is considered severe hypoglycemia?
<30 mg/dL
Why was Albert restricted to a lactose-free diet?
Lactose can be converted to galactose, which easily enters glycogen synthesis pathway.
Why was Albert's blood pH low/acidic? (Bonus - why did this happen?)
High levels of lactate (lactic acidosis). Due to increased beta-oxidation, NADH inhibition of pyruvate dehydrogenase, conversion of pyruvate into lactate.
What are considered normal (fasting) serum glucose ranges? (adult, neonate)
70-100 mg/dL (adults), 70-150 mg/dL (neonate)
What is the purpose of a glucose tolerance test?
To determine if a patient can use/store glucose normally. Test for diabetes, insulin resistance, impaired pancreatic beta cell function.
What does the body use for fuel in a fasted state? (very general, multiple answers)
Glycogen, Fatty Acids, Ketones
What are symptoms of hypoglycemia? Severe hypoglycemia?
Shakiness, increased hunger, sweating, fatigue, lightheadedness, confusion, tachycardia. Hypoglycemic shock (hypoglycemic encephalopathy, coma)
What pathways are glucose-6-p involved in?
Glycolysis, Glycogen Synthesis, Gluconeogenesis, Pentose Phosphate Pathway (also hexosamine pathway)
What steps did we take to determine there was a problem with glucose-6-phosphatase translocase in our patient? (two procedures/tests)
Performed a liver biopsy, performed an enzyme activity test with detergent
What enzyme(s) is(are) dysfunctional in GSD Type III?
alpha-1,6-glucosidase, 4-a-D-gluconotransferase