Glycogen storage disease Flashcards
What are the main symptoms?
Enlarged liver and pelvis; high lipid content in liver; high glycogen content in liver; high blood lactate and KBs
Main deficiency in glycogen storage disease?
G6Pase (extremely low)
G6Pase converts G6P to Glucose+Pi which will help maintain blood glucose levels
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What are the three types of transporters in the cell?
T1=transports G6P int the cell
T2=Transports Pi out of the cell
T3= transports glucose out of the cell
Where is G6Pase found?
most liver, kidney, and a bit in the small intestine; ER membrane; HAS 9 transmembrane loops so it is very hydrophobic
How do high levels of G6P lead to high levels of lactate?
G6P to F6P to F1,6BP to pyruvate then lactate–>go to lactic acid–> gout?
What are the amino acids crucial for G6P binding?
Arg 83 (involved in the catalytic activity); His 119; His 176
Where are the mutations found to cluster?
Arg 83; transmembrane helices; luminal loops
Treatment for Glyc. stor. disease?
drugs which inhibit glucose uptake by liver to keep BG levels higher; frequent feeding during the day, nasogastric feeding in the night; IV feeding of glucose;uncooked starch; liver transplant, gene therapy
because cells are so rich in energy already, any G6P not converted to glucose goes to KBs, FAs, or glycogen synthesis.
10-4
how many tm domains does T1 have?
10
when E levels are high, what is A-CoA converted to?
FAs, cholesterol, KBs
treatment for gout
allopurinol
dietary treatment
clinical phenotype/symptoms
enlarged liver; enlarged abdomen; enlarged kidney; hypoglycemia; hyperlactic acidemia; hyperlipidemia; hyperuricemia; hepatocellular adenoma
