Lysosomal and Glycogen Storage Disorders Flashcards
- Progressive neurodegeneration
- developmental delay
- “Cherry red” spot on macula
- onion-skin lysosomes
Tay-Sachs disease
- deficiency in HexoAminidase A leading to a build up in GM2 ganglioside
“Tay’s Not Devloping a CRush on his Lovely X Amanda”
- triad of peripheral neuropathy, angiokeratomas, hypo hydros is
- late: Progressive renal failure, cardiovascular disease
Fabry Disease
- X linked recessive
- deficiency in alpha-galactosidase resulting in accumulation of ceramics trihexiside
- central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy
- Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
Krabbe Disease
- Deficiency in Galactocerebrosidase leading to an accumulation of glactocerebroside
Most common lysosomal storage disease - hepatosplenomegaly - avascular necrosis of the femur - bone crises and osteoporosis - lipid-laden macrophages resembling crumpled tissue paper -
Gaucher Disease
- deficiency in glucocerebrosidase resulting in accumulation of glucocerebroside
- Progressive neurodegeneration
- Foam cells
- HSM
- “Cherry-red” spit on macula
Niemann-Pick Disease
- deficiency in sphingomyelinase resulting in an accumulation of sphingomyelin
- developmental delay
- gargoylism
- corneal clouding
Hurler Syndrome
- deficiency in alpha-L-iduronidase resulting in an accumulation of heparan sulfate and dermatan sulfate
- autosomal recessive
- developmental delay
- aggressive behavior
- no corneal clouding
Hunter Syndrome
- deficiency in iduronate sulfatase resulting in accumulation of heparan sulfate and dermatan sulfate
- severe fasting hypoglycemia with very increased levels of glycogen in the liver
- increased triglycerides and Uris acid (gout)
Von Gierke disease (Type I GSD)
- Deficiency in Glucose-6-phosphatase
- cardiomegaly
- HCOM
- exercise intolerance
- early death
Pompe Disease (Type II GSD) - deficiency in alpha-1,4-glucosidase (also has 1,6 activity) - aka acid maltase
- Mikder form of Von Gierke
- Accumulation of limit dextrans in cytosol
Cori disease (Type III GSD) - Deficiency of debranching enzyme
- increased glycogen storage in muscle and inability to break it down
- exercise intolerance with painful muscle cramps
- myoglobinuria
McArdle Disease (Type V GSD) - deficiency in skeletal muscle glycogen phosphorylase (mycophosphorylase)