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Biochemistry FA > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

Lysosomal storage disease is caused by / results in

A

Deficiency of one of the many lysosomal enzymes –> accumulation of abnormal metabolic products

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2
Q

Lysosomal storage diseases - types and diseases

A

A. spingolipidoses: 1. Fabry 2. Gaucher 3. Niemann-Pick 4. Tay-Sachs 5. Krabbe 6. Metachromatic leukodystrophy
B. Mucopolysacccharidosrs: 1. Hurler syndrome
2. Hunter syndrome

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3
Q

Sphingolipidoses mode of inheritance

MC?

A

AR except FABRY disease (XR)

MC: Gaucher disease

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4
Q

Fabry disease pathophysiology and mode of inheritance

A

a-galactosidase A deficiency

XR. The only sphingolipidoses that is not AR

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4
Q

a-galactosidase A action

A

Ceramide trihexoside to glucocerebroside

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5
Q

Fabry disease - presentation

A

early: Triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis
late: progressive renal failure, cardiovascular disease

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6
Q

Fabry disease accumulation

A

Ceramide trihexoside

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7
Q

Niemann-pick disease pathophysiology

A

Sphingomyelinase deficiency

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8
Q

Sphyngomyelinase action

A

Sphyngomyelin to ceramide

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9
Q

Niemann-Pick /accumulation of

A

Sphingomyelin

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10
Q

Most common sphingolipidosis

A

Gaucher disease

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11
Q

Niemman-pick disease findings

A
  1. Progressive neurodegeneration
  2. Cheery red spot on macule
  3. Foam cells (lipid-laden macrophages)
  4. Hepatosplenomegaly
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12
Q

Gaucher disease pathophysiology

A

Glucocerebrosidase (β-glucosidase)

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13
Q

Gaucher disease accumulation

A

Glucocerebroside

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15
Q

Gaucher findings

A
  1. Hepatosplenomegaly
  2. Pancytopenia
  3. Aseptic necrosis of femur
  4. Gaucher cell
  5. Bone crisis
  6. osteoporosis
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15
Q

Gaucher disease treatment

A

Recombinant glucocerebrosidase

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16
Q

Gaucher cells

A

Lipid-laden macrophages resembling crumpled tissue paper

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17
Q

Tay-Sachs disease pathophysiology

A

Hexosaminidase A deficiency

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18
Q

Bone crisis?

A

Severe bone pain

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19
Q

Hexosaminidase A action

A

GM2 ganglioside to GM3

20
Q

Tay-Sachs disease accumulation

A

GM2 ganglioside

21
Q

Tay-Sachs disease findings

A
  1. Progressive degeneration
  2. Developmental delay
  3. Cherry red spot on macule
  4. Lysosomes with onion skin
    NO HEPATOSPLENOMEGALY (vs Niemann-Pick)
22
Q

Niemann-PIck vs Tay-Sachs disease

A

Niemman pick has hepatosplenomegaly

23
Q

Krabbe disease pathophysiology

A

Galactocerebrosidase deficiency

24
Q

Galactocerebrosidase action

A

Galactocerebroside to ceramide

25
Q

Krabbe disease accumulation

A

Galactocerebroside, psychosine

26
Q

Krabbe disease findings

A
  1. Peripheral neuropathy
  2. Developmental delay
  3. Optic atrophy
  4. Globoid cells
27
Q

Metachromatic leukodystrophy pathophysiology

A

Arylsulfatase A

28
Q

Arysulfatase A action

A

Sulfatides to galactocerebroside

29
Q

Metachromatic leukodystrophy accumulation

A

Cerebroside sulfate

30
Q

Metachromatic leukodystrophy findings

A

Central and peripheral demyelination with ataxia and dementia

31
Q

Sphingolipidoses with globoid cells

A

Krabbe disease

32
Q

Sphingolipidoses with lysosome with onino skin

A

Tay-Sachs disease

33
Q

Sphingolipidoses with cherry red spot on macule

A

Niemman pick disease

Tay sachs disease

34
Q

Mucopolussaccharidoses accumulation

A

Heparan sulfate

Dermatan sulfate

35
Q

Name 2 mucopolusaccharidoses and mode of inheritance

A
  1. Harler syndrome (AR)

2. Hunter syndrome (XR)

36
Q

Hurler syndrome pathophysiology

A

a-L-iduronidase

38
Q

Hunter syndrome pathophysiology

A

Iduronate sulfatase deficiency

39
Q

Hurler syndrome symptoms

A
  1. Developmental delay
  2. Gargoylism (abnormal facial features)
  3. Airway obstruction
  4. Corneal clouding
  5. Hepatosplenomegaly
39
Q

Increased incidence of Tay-sachs, Niemann-Pick, some forms of Gaucher disease

A

Ashkenazi Jews

40
Q

Sphingolipidose with hepatosplenomegaly

A

Niemann-Pick disease

Gaucher disease

41
Q

Increased incidence of Tay-sachs, Niemann-Pick, some forms of Gaucher disease

A

Ashkenazi Jews

42
Q

Sphingolipidose with aseptic femur necrosis

43
Q

Sphingolipidose with optic atrophy

A

Krabbe disease

44
Q

Sphingolipidose with angiokeratomas

46
Q

Sphingolipidose with developmental delay

A

Krabbe disease

Tay-Sachs disease

47
Q

Metachromatic leukodystrophy enzyme deficiency

A

Arysulfatase A

48
Q

Sphingolipidose - Ashkenazi Jews

A

increased incidence of Tay-sachs, Niemann-Pick, some forms of Gaucher disease

49
Q

Hunter syndrome - symptoms

A

Mild Hurler + aggressive behavior, no corneal clouding

Biochemistry FA (16 decks)

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