Flashcards in Glycogen Storage Diseases Deck (20):
GSD 0: aka
Deficiency in glycogen synthase
Patients unable to synthesize glycogen | rely on glucose
Sxs: Hypoglycemia when fasting, muscle craps b/v lack of glycogen
Tx: eat frequently
GSD II: aka
Deficiency in acid maltase
Lysosomal degradation affected --> accumulation of glycogen in the lysosome --> muscle and liver cells are affected
Sxs: muscle weakness and myopathy, children die of heart failure
Tx: Enxyme replacement therapy of human alpha-glucosidase via IV
GSD IV: aka?
Deficiency in glucosyl (4:6) transferase
Branching enzyme deficiency --> long chain glycogen with few branches
Sxs: hepatomegaly, splenomegaly and cirrhosis
*usually dead by 5
GSD V: aka?
Deficiency in muscle glycogen phosphorylase
Blocks rate limiting step of glycogen breakdown --> muscles NOT enough glucose
Sxs: EXERCISE INTOLERANCE (dead muscles)
GSD VI: aka?
GSD VI: cause?
Deficiency in liver glycogen phosphorylase
Blocks glycogen breakdown in the liver --> accumulates in the liver --> hepatomegaly