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Biochem Step 1 HY > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

What is the enzyme deficiency in Fabry disease?

A

α-Galactosidase-A

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2
Q

What accumulates in Fabry disease?

A

Ceramide Trihexoside

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3
Q

What are the findings in Fabry disease?

A

1) Hypohidrosis
2) Angiokeratomas
3) Renal failure
4) Peripheral neuropathy

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4
Q

What is the enzyme deficiency in Gaucher disease?

A

Glucocerebrosidase

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5
Q

What accumulates in Gaucher disease?

A

Glucocerebroside

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6
Q

What are the findings in Gaucher disease?

A

1) Osteoporosis
2) Avascular necrosis of the femoral head

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7
Q

What is the most common lysosomal storage disease?

A

Gaucher Disease

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8
Q

What are Gaucher Cells?

A

Lipid-laden tissue paper cytoplasm

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9
Q

What is the enzyme deficiency in Tay-Sachs disease?

A

Hexosaminidase A

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10
Q

What accumulates in Tay-Sachs disease?

A

GM2-Ganglioside

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11
Q

What are the findings in Tay-Sachs disease?

A

1) Cherry-Red Macula!!!!!!!!!!!!!!!!!
2) Onion skin lysosomes
3) NO!!!! HEPATOSPLENOMEGALY!!! NONE!
4) Affects JEWS

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12
Q

What is the enzyme deficiency in Neimann-Pick disease?

A

Sphingomyelinase

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13
Q

What accumulates in Neimann-Pick disease?

A

Sphingomyelin

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14
Q

What are the findings in Neimann-Pick disease?

A

1) Cherry-Red Macula
2) “Foam Cells”/“Lipid laden macrophages”
3) HEPATOSPLENOMEGALY!!!!!

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15
Q

Tay-Sachs Vs. Niemann Pick?

A

TAY-SACHS DOES NOT HAVE HEPATOSPLENOMEGALY!!!

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16
Q

What is the enzyme deficiency in Krabbe disease?

A

Galactocerebrosidase

17
Q

What accumulates in Krabbe disease?

A

Galactocerebroside

18
Q

What are the findings in Krabbe disease?

A

1) Globoid cells
2) Oligodendrocyte destruction
3) Optic atrophy

Goo-ey Krab meat

19
Q

What is the enzyme deficiency in Hunter Syndrome?

A

Iduronate-2-Sulfatase

20
Q

What is the enzyme deficiency in Hurler Syndrome?

A

Alpha-2-Iduronitase

21
Q

What accumulates in both Hunter & Hurler Syndromes?

A

1) Dermatan Sulfate
2) Heparan Sulfate

22
Q

Which findings are found in BOTH Hunter & Hurler Syndromes?

A

1) Gargoylism
2) Airway Obstruction

23
Q

Which finding is UNIQUE to Hunter Syndrome?

A

Behavioral aggression

24
Q

Which finding is UNIQUE to Hurler Syndrome?

A

Corneal clouding

25
Q

What is the mode of inheritance for Hunter Syndrome?

A

X-Linked Recessive!!!!!!

26
Q

What is the enzyme deficiency in Metachromatic Leukodystrophy?

A

Arylsulfatase A

27
Q

What accumulates in Metachromatic Leukodystrophy?

A

Cerebroside Sulfate

28
Q

What are the findings in Metachromatic Leukodystrophy?

A

1) Demyelination (Central AND Peripheral)
2) Ataxia
3) Dementia

Biochem Step 1 HY (15 decks)

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