Card Set Information
Glycogen and Lysosomal Storage Diseases
Mnemonic for Glycogen Storage Diseases
Very Poor Carbohydrate Metabolism (VPCM)
Von Gierke's = G6Pase deficiency
Pompe's = Lysosomal alpha-1-4-glucosidase (acid maltase) deficiency
Cori's Disease = Debranching enzyme (alpha-1-6-glucosidase) deficiency
McArdle's disease = Skeletal muscle glycogen phosphorylase
Von Gierke's Disease
Type 1 Glycogen Storage Disease
Glucose 6 Phosphatase Deficiency
Causes severe fasting hypoglycemia
poor carbohydrate metabolism.
Lysosomal alpha-1-4-glucosidase (acid maltase) deficiency
Cardiomegaly and trashes the heart, liver, and muscles.
Pompe's trashes the Pump! Early Death.
Alpha 1-6 glucosidase deficiency (debranching enzyme)
Gluconeogenesis is intact, but some fasting hypoglycemia. Milder form of Type I.
Very Poor Carbohydrate
Skeletal muscle glycogen phosphorylase deficiency.
Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise.
Hexosaminidate A deficiency,
Sachs put a hex on Polio!
Increase in GM2 gangliosides. Whorled membranes in lysosomes (lysosomes with onion skin).
Symptoms: Death before 2, psychomotor retardation, cherry red spots on macula
Sphingomylenase Deficiency, Autosomal Recessive.
Sphingomyelin amounts increase.
Niemann-Pick Hinges on Hepatosplenomegaly
, Microcephaly, Mental retardation, Neonatal Onset, Red spots on macula too (just like Tay-Sachs)
Autosomal Recessive, Decreased glucocerebrosidase, Increased glucocerobrosidase.
Most common lysosomal storage disease.
Gaucher makes you grouchy because it has bone fractures and bone pain
avascular necrosis of femur.
Gaucher cells are macrophages that look like curmpled tissue paper. They are enlarged macrophages with fibrillary cytoplasm.