Lysosomal and Glycogen Storage Disorders Flashcards

1
Q
  • Progressive neurodegeneration
  • developmental delay
  • “Cherry red” spot on macula
  • onion-skin lysosomes
A

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”

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2
Q
  • triad of peripheral neuropathy, angiokeratomas, hypo hydros is
  • late: Progressive renal failure, cardiovascular disease
A

Fabry Disease

  • X linked recessive
  • deficiency in alpha-galactosidase resulting in accumulation of ceramics trihexiside
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3
Q
  • central and peripheral demyelination with ataxia and dementia
A

Metachromatic leukodystrophy

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4
Q
  • Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
A

Krabbe Disease

- Deficiency in Galactocerebrosidase leading to an accumulation of glactocerebroside

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5
Q
Most common lysosomal storage disease 
- hepatosplenomegaly
- avascular necrosis of the femur
- bone crises and osteoporosis 
- lipid-laden macrophages resembling crumpled tissue paper
-
A

Gaucher Disease

- deficiency in glucocerebrosidase resulting in accumulation of glucocerebroside

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6
Q
  • Progressive neurodegeneration
  • Foam cells
  • HSM
  • “Cherry-red” spit on macula
A

Niemann-Pick Disease

- deficiency in sphingomyelinase resulting in an accumulation of sphingomyelin

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7
Q
  • developmental delay
  • gargoylism
  • corneal clouding
A

Hurler Syndrome

  • deficiency in alpha-L-iduronidase resulting in an accumulation of heparan sulfate and dermatan sulfate
  • autosomal recessive
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8
Q
  • developmental delay
  • aggressive behavior
  • no corneal clouding
A

Hunter Syndrome

- deficiency in iduronate sulfatase resulting in accumulation of heparan sulfate and dermatan sulfate

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9
Q
  • severe fasting hypoglycemia with very increased levels of glycogen in the liver
  • increased triglycerides and Uris acid (gout)
A

Von Gierke disease (Type I GSD)

- Deficiency in Glucose-6-phosphatase

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10
Q
  • cardiomegaly
  • HCOM
  • exercise intolerance
  • early death
A
Pompe Disease (Type II GSD)
- deficiency in alpha-1,4-glucosidase (also has 1,6 activity) - aka acid maltase
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11
Q
  • Mikder form of Von Gierke

- Accumulation of limit dextrans in cytosol

A
Cori disease (Type III GSD)
- Deficiency of debranching enzyme
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12
Q
  • increased glycogen storage in muscle and inability to break it down
  • exercise intolerance with painful muscle cramps
  • myoglobinuria
A
McArdle Disease (Type V GSD)
- deficiency in skeletal muscle glycogen phosphorylase (mycophosphorylase)
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