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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
What is the inheritance of Krabbe Disease?
Autosomal Recessive
26
What enzyme is deficient in Metachromatic Leukodystrophy?
Arylsulfatase A
27
What is the accumulated substrate in Metachromatic Leukoystrophy?
Cerebroside sulfate
28
What are the clinical findings in metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia, dementia
29
What is the inheritance of Metachromatic leukodystrophy?
Autosomal Recessive
30
What are the (2) Mucopolysaccharidoses?
Hurler syndrome & Hunter Syndrome
31
What enzyme is deficient Hurler Syndrome?
alpha-L-iduronidase
32
What is the accumulated substrate in Hurler Syndrome?
Heparan Sulfate, Dermatan Sulfate
33
What are the clinical findings in Hurler Syndrome?
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
34
What enzyme is deficient in Hunter Syndrome?
Iduronate sulfatase
35
What are the accumulated substrates in Hurler syndrome?
Heparan sulfate, dermatan sulfate
36
What are the clinical findings in Hunter Syndrome?
Mild Hurler + aggresive behavior; no corneal clouding
37
What is the inheritance of Hurler Syndrome?
Autosomal Recessive
38
What is the inheritance of Hunter Syndrome?
X-linked Recessive
39
Mneumonic for this shit
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
Which lysosomal storage diseases have increased incidence in Ashkenazi Jews?
Tay-Sachs, Niemann-Pick, and some forms of Gaucher

First Aid (33 decks)

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