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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
- Very Poor Carbohydrate Metabolism
- 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, Autosomal Recessive
- Sachs put a hex on Polio!
- Increase in GM2 gangliosides. Whorled membranes in lysosomes (lysosomes with onion skin). No hepatosplenomegaly
Symptoms: Death before 2, psychomotor retardation, cherry red spots on macula
- Sphingomylenase Deficiency, Autosomal Recessive.
- Sphingomyelin amounts increase.
- Niemann-Pick Hinges on Hepatosplenomegaly
- Syptoms: Hepatosplenomegaly, Microcephaly, Mental retardation, Neonatal Onset, Red spots on macula too (just like Tay-Sachs)
Gaucher makes you grouchy because it has bone fractures and bone pain
- Autosomal Recessive, Decreased glucocerebrosidase, Increased glucocerobrosidase.
- Most common lysosomal storage disease.
, avascular necrosis of femur.
Gaucher cells are macrophages that look like curmpled tissue paper. They are enlarged macrophages with fibrillary cytoplasm.