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STEP 1 > Lysosomal storage disease > Flashcards

Lysosomal storage disease Flashcards

1
Q

HexosaminidaseA deficiency

A

Tay-Sachs disease

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2
Q

alpha galactosidase A deficiency

A

Fabry

Fabry is the X-rated alpha bitch

XLR

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3
Q

Arylsulfatase A deficiency

A

Metachromatic leukodystrophy

clumsy (ataxia), crazy (dementia). ARYA with her Sulfur, Metal brain (cerebrosulfate –> Metachromatic)

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4
Q

Galactocerebrosidase deficiency

A

Krabbe

My galactic crab!

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5
Q

Glucocerebrosidase (β-glucosidase)

A

Gaucher

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6
Q

Sphingomyelinase deficiency

A

Neimann Pick

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7
Q

α-L-iduronidase deficiency

A

Hurler syndrome

Hurler is a Loser Idiot.

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8
Q

Iduronate-2-sulfatase deficiency

A

Hunter SYNDROME

Hunter is an Idiot 2

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9
Q

↑ GM2 ganglioside accumulation

A

Tay-Sachs

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10
Q

↑ Ceramidetrihexoside (globotriaosylce-ramide) accumulation

A

Fabry

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11
Q

↑ cerebroside sulfate accumulation

A

Metachromatic leukodystrophy

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12
Q

Galactocerebroside, psychosine accumulation

A

Krabbe

My psycho galactic crab!

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13
Q

Glucocerebroside accumulation

A

Gaucher

Sweet, Smart Cowboy

Gluco-Cerebro
Gaucho = cowboy

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14
Q

Sphingomyelin accumulation

A

Neimann Pick

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15
Q

Heparan sulfate, dermatan sulfate accumulation

A

Hurler and Hunter Syndrome

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16
Q

All Lysosomal diseases except Fabry and Hunter syndrome are what time of inheritance?

A

AR

Fabry & Hunter Syndrome are XR

17
Q

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

Llamelar zebra bodies

A

Hurler Syndrome

18
Q

Mild Hurler (Developmental delay, gargoylism, airway obstruction, Hepatomegaly)
+
aggressive behavior

NO corneal clouding

A

Hunter Syndrome

The Hunter is aggresive and can see the X clearly

(XLR)

19
Q

Progressive neurodegeneration, hepatosplenomegaly,
foam cells (lipid-laden macrophages)
Zebra bodies (Llamelar inside lysosomes)
“cherry-red” spot on macula

A

Neimann Pick

Don’t pick a foamy cherry with your sphinger

20
Q 
Most common.
Hepatosplenomegaly
pancytopenia
osteoporosis
avascular necrosis of femur
bone pain/crisis

Lipid-laden macrophages resembling crumpled tissue paper

A

Gaucher

The sweet and smart, cowboy will break your bones and leave you crying like a pancy.

“osteoporosis, avascular necrosis of femur, bone pain. pancytopenia”

“Crumpled tissue - fatty Mq”

21
Q

Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy (loss of vision).

globoid cells

A

Krabbe

My galactic crab can’t feel a thing, see a thing, move a thing his globoid shell.

22
Q

Central and peripheral demyelination with
ataxia
dementia/ memory deficits
developmental delay

A

Metachromatic Leukodystrophy

23
Q

Early symptoms:
Triad of episodic peripheral neuropathy called
Dysesthesia (painful, itchy, burning, or paresthesias)
Hypohidrosis
Angiokeratomas

Late symptoms:
Cardiomyopathy
Nephropathy (renal failure)

A

Fabry

Fabry is the alpha girl who barely breaks a sweat trying to Hex you with blood spots. She will eventually break your heart and make you pee yourself without feeling a thing

(Cerebrotrihexamine)

24
Q

Progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, “cherry-red” spot onmacula , lysosomes with onion skin, no hepatosplenomegaly

A

Tay-Sachs

“GiMme 2 stupid reasons to sTAY away from my JUMPY, RED, ONION”

Hyperacusis: noises sound louder –> startled by noise
Jumpy: hyperreflexia and Hyperacusis

25
Q 
Coarse facial features
Corneal clouding
Gingival hyperplasia
Claw hand deformity
Kyphoscoliosis
A

I-cell disease

26
Q

↓ N-acetylglucosaminyl-1-phosphotransferase →

↑ abnormal lysosomal substances

A

I-cell disease

27
Q

Progressive deterioration of vision, hearing, and motor function
Dementia
Adrenal insufficiency

A

Adrenoleukodystrophy

28
Q

↓ ATP-binding cassette transporter → ↑ deposits of very-long-chain fatty acids

A

Adrenoleukodystrophy

STEP 1 (88 decks)

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