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All the Small Things > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

What is the enzyme that is deficient, and what is the substance the is built up with: Fabry disease

A

alpha-galactosidase

Ceramide trihexoside

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2
Q

What is the enzyme that is deficient, and what is the substance the is built up with: Gaucher’s disease?

A

Glucocerebrosidase

Glucocerebroside

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3
Q

What is the enzyme that is deficient, and what is the substance the is built up with: Niemann-Pick disease

A

Sphingomyelinase

Sphingomyelin

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4
Q

What is the enzyme that is deficient, and what is the substance the is built up with: Tay-Sachs disease

A

Hexosaminidase

GM2 ganglioside

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5
Q

What is the enzyme that is deficient, and what is the substance the is built up with: Krabbe disease

A

Galactocerebrosidase

galactocerebroside

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6
Q

What is the classic triad for fabry’s disease?

A
  • Episodic peripheral neuropathy
  • Angiokeratomas
  • Hypohidrosis
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7
Q

What are the classic s/sx of Gaucher’s disease?

A
  • HSM
  • Pancytopenia
  • Osteoporosis
  • (Bone marrow issues)
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8
Q

What are the classic s/sx of Niemann-Pick’s disease? (3)

A
  • Progressive neurodegeneration
  • HSM
  • Cherry red spot on the macula
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9
Q

What are the classic s/sx of tay-Sach’s disease?

A
  • Progressive neurodegeneration
  • Cherry red spot on macula
  • Lysosomes with onion skin
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10
Q

Both Tay-Sach’s disease and Niemann-Pick’s disease present with neurodegeneration, and a cherry red spot on the macula. How can you differentiate the two?

A

NP does not have HSM, and has onion skin macrophages

TS = HSM + Lipid laden macrophage

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11
Q

What is the enzyme that is deficient, and what is the substance the is built up with: metachromatic leukodystrophy?

A

Arylsulfatase A

Cerebro Sulfate

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