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High Yield > Lysosomal Storage diseases > Flashcards

Lysosomal Storage diseases Flashcards

1
Q

Enzyme deficiency in Fabry’s disease

A

Alpha-galactosidase A

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2
Q

Accumulated substrate in Fabry’s disease

A

Ceramide trihexoside

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3
Q

Enzyme deficiency in Gaucher’s disease

A

Beta-glucocerebrosidase

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4
Q

Accumulated substrate in Gaucher’s disease

A

Glucocerebroside

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5
Q

Enzyme deficiency in Niemann-Pick disease

A

Sphingomyelinase

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6
Q

Accumulated substrate in Niemann-Pick disease

A

Sphingomyelin

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7
Q

Enzyme deficiency in Tay-Sachs disease

A

Hexosaminidase A

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8
Q

Accumulated substrate in Tay-Sachs disease

A

GM2 ganglioside

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9
Q

Enzyme deficiency in Krabbe’s disease

A

Galactocerebrosidase

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10
Q

Accumulated substrate in Krabbe’s disease

A

Galactocerebroside

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11
Q

Enzyme deficiency in Metachromatic leukodystrophy

A

Arylsulfatase A

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12
Q

Accumulated substrate in Metachromatic leukodystrophy

A

Cerebroside sulfate

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13
Q

Enzyme deficiency in Hurler’s syndrome

A

Alpha-L-iduronidase

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14
Q

Accumulated substrate in Hurler’s syndrome

A

Heparan sulfate and dermatan sulfate

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15
Q

Enzyme deficiency in Hunter’s syndrome

A

Iduronate sulfatase

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16
Q

Accumulated substrate in Hunter’s syndrome

A

Heparan sulfate and dermatan sulfate

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17
Q

Lysosomal storage disease a/w renal failure

A

Fabry’s disease

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18
Q

Most common lysosomal storage disease

A

Gaucher’s disease

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19
Q

Only two X-linked lysosomal storage diseases

A

Fabry’s disease and Hunter’s syndrome

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20
Q

Lysosomal storage disease that is a demyelinating disease

A

Metachromatic leukodystrophy

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21
Q

Lysosomal storage disease that is a milder form of Hurler’s syndrome (no mental retardation)

A

Scheie’s syndrome

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22
Q

Lysosomal storage disease that is due to a deficiency of mannose phosphorylation

A

I-cell disease

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23
Q

Most lysosomal storage disease have this inheritance pattern

24
Q

Gaucher’s disease features cells that are:

A

macrophages that look like crumpled tissue paper

25
Q

2 Lysosomal storage diseases that are a/w progressive neurodegeneration

A

Niemann Pick and Tay Sachs

26
Q

Lysosomal storage disease that is associated with bone crises

A

Gaucher’s

27
Q

Lysosomal storage diseases (2) that are a/w cherry red spot on macula

A

Niemann-Pick & Tay-Sachs

28
Q

Main difference b/w Niemann Pick and Tay-Sachs

A

Tay-Sachs does NOT have hepatosplenomegaly

29
Q

LSD w/ foam cells

A

Niemann-Pick

30
Q

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal dx

A

Fabry’s Dz

31
Q

Hepatosplenomegaly, aseptic necrosis of femur, bone crises,

A

Gaucher’s Dz

32
Q

Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells

A

Niemann Pick Dz

33
Q

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes w/ onion skin, NO heptaosplenomegaly

34
Q

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe’s Dz

35
Q

Central & peripheral demyelination w/ ataxia, dementia

A

Metachromatic leukodystrophy

36
Q

Developmental delay, gargoylism, airway obstruction, corneal clouding, MR, hepatosplenomegaly

A

Hurler’s Syndrome

37
Q

Mild developmental delay, gargoylism, airway obstruction, MR, hepatosplenomegaly, aggressive behavior

A

Hunter’s Syndrome

38
Q
  1. Which lysosomal storage disease is associated with renal failure?
  2. How does it present?
  3. What is the treatment?
A
  1. Fabry disease
  2. Presentation
    • Peripheral neuropathy of the hands and feet
    • Angiokeratomas
    • Cardiovascular and renal disease
    • Deficiency in alpha-galactosidase A (X-linked ressesive)
  3. Treat with dialysis
39
Q
  1. What are the only 2 X-linked recessive lysosomal storage diseases?
  2. What is the method of inheritance of the others?
A
  1. Fabry disease and Hunter disease (X marks the spot)
  2. Most are autosomal recessive
40
Q

What is the most common lysosomal storage disease?

A

Gaucher disease

  1. Hepatosplenomegaly
  2. Aseptic necrosis of femur
  3. Macrophages look like crumpled tissue paper
41
Q

Which lysosomal storage diseases are associated with early death (Usually by age 3)?

A
  1. Tay-Sachs disease
  2. Niemann-Pick disease
  3. Krabbe disease
42
Q

Which lysosomal storage disease is a demyelinating disease?

A

Metochromatic leukodystrophy

43
Q

How might corneal clouding and mental retardation help distinguish between the mucopolysaccharidoses?

  1. Hurler syndrome
  2. Hunter syndrome
  3. Scheie syndrome
  4. I-cell disease
A
  1. Hurler syndrome: Corneal clouding + Mental retardation
  2. Hunter syndrome: Mental retardation only
  3. Scheie syndrome: Corneal clouding only
  4. I-cell disease: Corneal clouding +/- Mental retardation

Scheie syndrome is essentially a milder form of Hurler syndrome

44
Q

Alpha-L-iduronidase deficiency

A

Hurler’s Syndrome

45
Q

Iduronate sulfatase deficiency

A

Hunter syndrome

46
Q

Arylsulfatase A defeciency

A

Metachromatic leukodystrophy

47
Q

Alpha-galactosidase A deficiency

A

Fabry disease

48
Q

Galactocerebrosidase deficiency -> galactocerebroside accumulation

A

Krabbe disease

49
Q

Beta-glucocerebrosidase deficiency -> glucocerebroside accumulation

A

Gaucher disease

50
Q

Hexosaminidase deficiency

A

Tay-Sachs disease

51
Q

Sphingomyelinase deficiency -> Sphingomyelin accumulation

A

Niemann-Pick disease

52
Q

Characterized by an accumulation of GM2 ganglioside

A

Tay-Sachs disease

53
Q

Characterized by an accumulation of dermatan sulfate

A

Hurler, Hunter, and Scheie syndromes

54
Q

Which are particularly common among Ashkenazi jews?

A
  1. Tay-Sachs disease
  2. Niemann-Pick disease
  3. Gaucher disease
55
Q

Which has characteristic “Crinkled paper cytoplasm”?

A

Gaucher disease

56
Q

What is the differential diagnosis for a cherry-red spot on the retina?

A
  1. Niemann-Pick disease
  2. Tay-Sachs disease
  3. Central retinal artery occlusion

High Yield (34 decks)

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