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First Aid > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

Lysosomal Storage Diseases description?

A

Each is caused by a deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products

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2
Q

What are 6 the sphingolipidoses?

A

1) Fabry Disease 2) Gaucher Disease 3) Niemann-Pick Disease 4) Tay Sachs Disease 5) Krabbe Disease 6) Metachromatic leukodystrophy

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3
Q

What enzyme is deficient in Fabry disease?

A

alpha-galatosidase A

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4
Q

What is the accumulated substrate in Fabry disease?

A

Ceramide trihexoside

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5
Q

What are the findings in Fabry disease?

A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. Red macules or papules on abdomen or scrotum

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6
Q

What is the inheritance of Fabry disease?

A

X-linked Recessive

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7
Q

What enzyme is deficient in Gaucher Disease?

A

Glucocerebrosidase (beta-glucosidase)

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8
Q

What is the accumulated substrate in Gaucher Disease?

A

Glucocerebroside

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9
Q

Which is the most common lysosomal storage disease?

A

Gaucher

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10
Q

What are the findings in Gaucher Disease?

A

Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells

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11
Q

What are Gaucher cells?

A

lipid-laden macrophages resembling crumpled tissue paper

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12
Q

What is the treatment of Gaucher disease?

A

recombinant glucocerebrosidase

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13
Q

What is the inheritance of Gaucher disease?

A

Autosomal Recessive

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14
Q

What enzyme is deficient in Niemann-Pick Disease?

A

Sphingomelinase

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15
Q

What substrate is accumulated in Niemann-Pick Disease?

A

Sphingomyelin

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16
Q

What are the findings in Niemann-Pick Disease?

A

Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells (lipid-laden macrophages)

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17
Q

What is the inheritance of Niemann-Pick Disease?

A

Autosomal Recessive

18
Q

What enzyme is deficient in Tay-Sachs disease?

A

Hexosaminidase A

19
Q

What is the accumulated susbstrate in Tay-Sachs?

A

GM2 ganglioside

20
Q

What are the findings in Tay-Sachs?

A

Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly

21
Q

What clinical symptom differentiates Niemann-Pick from Tay-Sachs?

A

Hepatosplenomegaly is present in Niemann-Pick but NOT Tay-Sachs

22
Q

What enzyme is deficient in Krabbe disease?

A

Galatocerebrosidase

23
Q

What is the accumulated substrate in Krabbe disease?

A

Galactocerebroside, psychosine

24
Q

What are the clinical findings in Krabbe disease?

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

25
Q

What is the inheritance of Krabbe Disease?

A

Autosomal Recessive

26
Q

What enzyme is deficient in Metachromatic Leukodystrophy?

A

Arylsulfatase A

27
Q

What is the accumulated substrate in Metachromatic Leukoystrophy?

A

Cerebroside sulfate

28
Q

What are the clinical findings in metachromatic leukodystrophy?

A

Central and peripheral demyelination with ataxia, dementia

29
Q

What is the inheritance of Metachromatic leukodystrophy?

A

Autosomal Recessive

30
Q

What are the (2) Mucopolysaccharidoses?

A

Hurler syndrome & Hunter Syndrome

31
Q

What enzyme is deficient Hurler Syndrome?

A

alpha-L-iduronidase

32
Q

What is the accumulated substrate in Hurler Syndrome?

A

Heparan Sulfate, Dermatan Sulfate

33
Q

What are the clinical findings in Hurler Syndrome?

A

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

34
Q

What enzyme is deficient in Hunter Syndrome?

A

Iduronate sulfatase

35
Q

What are the accumulated substrates in Hurler syndrome?

A

Heparan sulfate, dermatan sulfate

36
Q

What are the clinical findings in Hunter Syndrome?

A

Mild Hurler + aggresive behavior; no corneal clouding

37
Q

What is the inheritance of Hurler Syndrome?

A

Autosomal Recessive

38
Q

What is the inheritance of Hunter Syndrome?

A

X-linked Recessive

39
Q

Mneumonic for this shit

A

NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGer (SPHINGOMYELINASE).
tay-saX lacks heXosamindase
HUNTERS see clearly (no corneal clouding) and aggressively aim for the X (X-linked).

40
Q

Which lysosomal storage diseases have increased incidence in Ashkenazi Jews?

A

Tay-Sachs, Niemann-Pick, and some forms of Gaucher

First Aid (33 decks)

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