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PFM: Biweekly Exam 2 > Lysosome Storage Diseases > Flashcards

Lysosome Storage Diseases Flashcards

1
Q

this disease is caused by glucocerebrosidase (beta-glucosidase) deficiency

A

Gaucher Disease

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2
Q

this disease is caused by glucocerebroside buildup

A

Gaucher Disease

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3
Q

mnemonic for Gaucher Disease

A

oh my gauch, he’s such a bro

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4
Q

sx’s of this disease include:
hepatosplenomegaly
pancytopenia (low RBCs)
bone disease (xray of knee looks like erlenmeyer flask)
specific cells- crumpled tissue paper like

A

Gaucher Disease

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5
Q

all sphingolipidoses are autosomal recessive except this disease (X-linked)

A

Fabry Disease

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6
Q

caused by alpha-galactosidase A deficiency

A

Fabry Disease

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7
Q

caused by buildup of ceramide trihexoside (aka globotriasylceramide)

A

Fabry Disease

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8
Q

early sx’s:
triad of peripheral neuropathy
angiokeratomas
hypohidrosis (inadequate sweating)

A

Fabry Disease

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9
Q

Late sx’s include:
progressive renal failure
cardiovascular disease

A

Fabry Disease

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10
Q

mnemonic for fabry disease

A

My fabrite activity is ceramics. We made a galaxy

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11
Q

caused by sphingomyelinase deficiency

A

Niemann-Pick Disease

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12
Q

caused by buildup of Sphingomyelin

A

Niemann-Pick Disease

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13
Q

progressive neurodegeneration
cherry red spot on macula (corneal clouding)
foam cells
death by 2-3 yrs
hepatosplenomegaly

A

Niemann-Pick Disease

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14
Q

mnemonic for Niemann-Pick

A

pick your BIG nose with your sphinger

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15
Q

caused by hexosaminidase A deficiency

A

Tay-Sachs Disease

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16
Q

caused by buildup of GM2 ganglioside

A

Tay-Sachs Disease

17
Q

cherry red spot on macula
death by 5 yrs
cognitive/motor deterioration
onion skin lysosomes
NO hepatomsplenomegaly

A

Tay-Sachs Disease

18
Q

mnemonic for tay-sachs

A

a gang of six smelly jews

19
Q

caused by deficiency in arylsulfatase A

A

metachromatic leukodystrophy

20
Q

caused by buildup of cerebroside sulfate

A

metachromatic leukodystrophy

21
Q

infantile and childhood onset:
ataxia
developmental delay
neurocognitive and behavioral changes
peripheral neuropathy
paralysis

A

metachromatic leukodystrophy

22
Q

caused by progressive demyelination of PNS

A

metachromatic leukodystrophy

23
Q

caused by deficiency in galactocerebrosidase

A

Krabbe Disease

24
Q

caused by buildup of galactocerebroside

A

Krabbe Disease

25
Q

formation of globoid cells
developmental delay
peripheral neuropathy
loss of vision

A

Krabbe Disease

26
Q

mnemonic for Krabbe disease

A

The Krabbe is out of this world

27
Q

two types of Mucopolysaccharidoses

A

Type 1: Hurler syndrome
Type 2: Hunter syndrome

28
Q

caused by alpha-L-iduronidase deficiency

A

Hurler Syndrome

29
Q

caused by glycosaminoglycans buildup (heparan and dermatan)

A

both Hurler and Hunter syndrome

30
Q

caused by iduronate-2-sulfatase deficiency

A

Hunter syndrome

31
Q

sx’s include:
developmental delay
coarse facial features
organomegaly

A

both Hurler and Hunter

32
Q

corneal clouding and failure to thrive
autosomal recessive

A

Hurler Syndrome

33
Q

NO corneal clouding
aggressive behavior
hyperactivity
X-linked recessive

A

Hunter Syndrome

34
Q

the worst of the lysosomal diseases (a mucolipidose)

A

Type II mucolipidose or I-cell disease

35
Q

caused by deficiency in N-acetylglucosaminyl-1-phosphotransferase

A

Type II mucolipidose or I-cell disease

36
Q

caused by buildup of mucopolysaccharides and lipids

A

Type II mucolipidose or I-cell disease

37
Q

sx’s:
coarse facial features
corneal clouding
abnormal bone growth
claw hand
failure to thrive

A

Type II mucolipidose or I-cell disease

PFM: Biweekly Exam 2 (20 decks)

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