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GI Block > Met 2: Lysosomal Storage Diseases > Flashcards

Met 2: Lysosomal Storage Diseases Flashcards

1
Q

How are enzymes targeted to the lysosome?

A

Enzymes are tagged with mannose 6 phosphate

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2
Q

What is the function of the lysosome?

A

Provide a sequestered, acidic environment for breaking things down (eg. Sphingolipids, glycosaminoglycans)

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3
Q

What is the structure and function of sphingolipids?

A

Serine backbone, two fatty acids, carbohydrate R group

Involved in nervous system membranes and signaling

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4
Q

Describe the structure and function of glycosaminoglycans

A

Small protein core with many polysaccharides attached

Structural functions

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5
Q

What is the defect in Gaucher disease?

What metabolite builds up?

What are the two subtypes?

A
  • Defect in beta glucosidase enzyme (aka glucocerebrosidase) causing build-up of glucocerebroside
  • Non-neuronopathic: milder disease, no CNS symptoms
  • Neuronopathic: severe disease, CNS symptoms
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6
Q

What is the treatment for Gaucher disease?

A
  • Enzyme replacement therapy
    • Enzyme can’t penetrate CNS, so doesn’t fully work in neuronopathic form
  • Reduce production of glucocerebroside (enzyme substrate)
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7
Q

Ashkenazi Jews are at increased risk of which two lysosomal storage diseases?

A

Tay Sachs

Gaucher

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8
Q

Name 4 symptoms of Gaucher disease

A
  • Failure to thrive, fatigue
  • Hepatosplenomegaly
  • Pancytopenia
  • Bone pain
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9
Q

“Crumpled tissue paper cells” is associated with what condition?

What about Erlenmeyer flask deformity?

A

Gaucher Disease

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10
Q

Defect in Fabry disease?

What is the inheritance?

A
  • Defect in alpha-galactosidase
  • X-linked, semi-dominant
    • females symptomatic but later in life
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11
Q

2 symptoms of Fabry in boys

4 symptoms of Fabry in adults

A
  • Boys
    • acroparasthesia (abnormal sensation in hands and feet)
    • temperature intolerance
  • Adults
    • Renal failure
    • Hypertrophic cardiomyopathy
    • Stroke
    • Angiokeratoma in bathing suit area
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12
Q

Fabry treatment

A

Enzyme replacement therapy

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13
Q

Defect in Tay Sachs?

A
  • Beta hexosaminidase A defect
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14
Q

4 Symptoms of Tay Sachs

A
  • Hypotonia
  • Increased startle (due to blindness)
  • Progressive neurologic dysfunction
  • Cherry red spot on macula
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15
Q

Defect in Hurler (MPS I) Syndrome?

Where do you look for build-up products?

A
  • Defect in alpha iduronidase
    • Breaks down mucopolysaccharide
  • MPS detectable in urine
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16
Q

Symptoms/Signs of Hurler Syndrome

A
  • Short, macrocephaly, macroglossia
  • Joint contractures and dysostosis multiplex (broad phalanges)
  • Cardiac valve disease
  • Hepatosplenomegaly
  • Cognitive decline
  • Corneal opacity
17
Q

Treatment of Hurler and Hunter Syndrome

A
  • Enzyme replacement therapy for both
  • Hurler syndrome only:
    • Early bone marrow transplant isn’t curative but prevents cognitive decline
18
Q

Hunter syndrome (MPS II) defect?

Inheritance?

A
  • Iduronate sulfatase deficiency
  • X-linked Recessive
    • females have no symptoms
19
Q

Compare the symptoms of Hurler and Hunter syndrome

A

Exact same symptoms except Hunter DOES NOT have corneal clouding

20
Q

Defect in Pompe disease?

What builds up?

Tx?

A
  • Defect in alpha glucosidase
  • Toxic accumulation of glycogen in lysosomes
  • Tx: Enzyme replacement therapy
21
Q

How do you diagnose Pompe Disease? (3)

A

High voltage EKG and huge heart on CXR

Elevated CK from muscle breakdown

22
Q

3 Symptoms of Pompe Disease

A
  • Hypotonia
  • Severe cardiac hypertrophy
  • Adults may have respiratory weakness (sleep apnea)
23
Q

Defect of Niemann Pick A dz?

Name one sign

A

Niemann Pick A = sphingomyelinase deficiency

Cherry red spot (similar to Tay-Sachs)

24
Q

Name 2 signs of Niemann Pick C

A

Supranuclear gaze palsy (can’t look up)

Gelastic cataplexy

25
Q

Sandhoff disease is very similar to _______

A

Sandhoff disease is very similar to Tay Sachs

26
Q

Mucopolysaccharides are also called _________

A

Mucopolysaccharides are also called proteoglycans

GI Block (77 decks)

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