Glycogen storage disease Flashcards
Type I, Von Gierke’s: enzyme, organs, glycogen structure
Glucose-6-phosphatase, liver and kidney, nl structure increased amount
Type I, Von Gierke’s: sx
Fasting hypoglycemia, failure to thrive, hyperlipidemia, hepatomegaly, lactic acidosis, mental retardation
Type II, Pompe’s: enzyme, organs, glycogen structure
1,4-Glucosidase, all organs, nl structure massive increase in amount
Type II, Pompe’s: clinical sx
Cardiorespiratory failure, hypotonia, cardiomegaly, death before age 2
Type III, Cori’s: enzyme, organs, glycogen structure
Amylo-1,6-debranching enzyme, liver and muscles, increased amount short outer branches
Type III, Cori’s: clinical sx
Like Type I, but milder
Type IV, Anderson’s: enzyme, organs, glycogen structure
Branching enzyme, liver and spleen, nl amount, long branches
Type IV, Anderson’s: clinical sx
Liver cirrhosis, liver failure, death before age 2
Type V, McArdle’s: enzyme, organs, glycogen structure
Muscle phosphorylase, muscles, increased amount nl structure
Type V, McArdle’s: clinical sx
Unable to exercise strenuously, painful muscle cramps
Type VI, Her’s: enzyme, organs, glycogen structure
Liver phosphorylase, liver, increased amnt nl structure
Type VI, Her’s: clinical sx
Like type I, but milder
Type VII: enzyme, organs, glycogen structure
PFK-1, muscle, increased amount
Type VII: clinical sx
Like type V
Type VIII: enzyme, organs, glycogen structure
Phosphorylase kinase, liver, increase amnt nl sturcture
