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Biochemistry > Lysosomal Storage Diseases > Flashcards

Lysosomal Storage Diseases Flashcards

1
Q

What are ceramides?

A

Sphingosine (amino alcohol) and then addition to fatty acid: ceramide

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2
Q

What is the mnemonic for fabry disease?

A

A fabulous alpha male that breaks the hearts of three angelic women in pain by peeing on them. No sweat!

Fabulous fabry 
Alpha alpha galactosidase 
Male X linked 
Hearts: cardiovascular disease, left ventricular hypertrophy, heart failure 
Three: ceramide trihexose 
Angelic: angiokeratomas 
In pain: peripheral nueropathy (in legs) burning pain 
Peeing: progressive renal failure
No sweat: hypohidrosis
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3
Q

When does fabry present

A

Early childhood to adulthood

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4
Q

What is the classic presentation of fabry disease

A

Pain in leg/ feet
Lack of sweat
Skin findings

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5
Q

What are angiokeratomas

A

Raised small reddish bluish spots, dilated surface capillaries

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6
Q

What is the structure of ceramide trihexoside

A

Ceramide-glucose-galactose-galactose

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7
Q

Ceramide trihexoside is broken down by

A

Alpha glucosidase

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8
Q

What is the mnemonic for gaucher?

A

Glucose is so gauche, carrying a big liver and bone around? Thats so tacky, just go get a purse. Go hide and cry into some crumpled tissue

Glucocerebroside
Glucocerebrosidase
Big liver: hepatomegaly, splenomegaly
Bone: bone marrow: pancytopenia
Avascular necrosis of the joints, femur
Bone crises
Gaucer cells (lipid laden macrophages resembling crumpled tissue)

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9
Q

What is the bone crisis?

A

Infilteration of the gaucher in the intramedullary space,
Bone ischemia
Bone pain often with fever

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10
Q

What type of genetic disorder is gaucher disease

A

Autosomal recessive

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11
Q

Which lysosomal storage disease is the most common

A

Gaucher

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12
Q

Gaucher disease presents most in which population

A

Ashkenazi jewish

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13
Q

How many types of gaucher are there

A

Three types

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14
Q

What is the type 2 form of gaucher disease, and when does death occur

A

More cns dysfunction

Less than two

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15
Q

When does gaucher disease present

A

In childhood to adulthood

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16
Q

What is the classic presentation of child with gaucher disease

A

From the ashkenazi descent
Splenomegaly on exam
Anemia, bruising
Joint pain/fractures

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17
Q

What is the mnemonic for neimann pick disease

A

I hope No Man picks his bloody foaming nose with his sphinger. Crazy bitch

I hope: hepatomegaly 
No Man: neimann pick 
Bloody: cherry red spot
Foaming: lipid laden macrophages 
With his sphinger: sphingomyelin
Broken down by sphingomyelinase 
Progressive nuerodegeneration
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18
Q

What type of genetic disorder is neimann pick disease

A

AR

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19
Q

Which population is Neimann pick disease more common in

A

Ashkenazi jewish

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20
Q

What is the classic presentation of neimann pick disease

A

Previously well healthy child
Child loses motor skills as time goes along
Enlarged spleen or liver on exam
Cherry red spot on macula

21
Q

What is the mnemonic for krabbe disease

A

I am krabbe because i cannot see the globes in the galaxy, i am in pain, olio

Krabbe krabbe disease

Cannot see: optic nueropathy 
Globes: globoid cells (neuronal tissue)
Galaxy: galactocerebrosidase, galactocerebroside
Pain: peripheral neuropathy 
Olio: destruction of oligodendrocytes 
Developmental delay
22
Q

What type of genetic disorder is krabbe disease

A

AR

23
Q

In krabbe disease, what is the developmental delay?

A

Floppy hands, cant turn head, absent reflexes

24
Q

When does krabbe disease present

A

After 6 months, death before 2 years of age

25
Q

What is the structure of galactocerebroside and glucocerebroside

A

Ceramide-galactose

Ceramide-glucose

26
Q

What is the structure of GM2 ganglioside

A

Ganglioside

Ceramide trihexoside plus NANA

27
Q

Which type of genetic disorder is Tay Sachs disease

A

AR

28
Q

What is mnemonic for tay sach disease

A

“I put my sachs of onions and cherries in the back of my GM truck. I sure hope they don’t get hexed.”

Sachs tay sachs
Onions lysosomes with onion skin
Cherries cherry red spot
GM ganglioside 2
Hex hexoamindase
29
Q

When does tay sachs disease present

A

3-6 months of age, death before 2

30
Q

What is the symptoms of tay sach disease, the neurological symptoms?

A

Weakness, exaggerated startle reaction, seizures, paralysis

31
Q

What is the presentation of tay sach disease

A 
3-6 months of age 
Ashkenazi descent 
Development delay 
Exaggerated startle response 
Cherry red spot
32
Q

How to distinguish between tay sach and neimann pick

A

Cherry red spot, progressive nuerodegeneration, but no hepatomegaly in tay Sachs

33
Q

What is the mneomic for metachromatic luekodystrophy

A

“Aryl had many colorful and cerebral brothers, they made him clumsy and crazy.”

Aryl sulfatase A
Colorful metachromatic 
Cerebral cerebroside sulfate
Clumsy ataxia
Crazy dementia

Central and peripheral demyelination

34
Q

Which type of genetic disorder is metachromatic leukodystrophy

A

AR

35
Q

What is the structure of sulfatides

A

Galactocerebroside plus sulfuric acid

36
Q

Sulfatides are a central part of what structure

A

Myelin

37
Q

When does metachromatic luekodystrophy develop

A

After two years of age, death before childhood

38
Q

GAGs are also called

A

Mucopolysaccharides

39
Q

The repeating disaccharide sugars of GAGs consists of

A

Amino sugar and uronic acid

40
Q

What do the structures of heparan sulfate and dermatan sulfate have in common

A

They have L iduronate

41
Q

Which enzyme is deficient in hurler syndrome and which substances accumulate

A

Alpha L iduronidase

Herparan sulfate and dermatan sulfate

42
Q

Which genetic type disorder is hurler syndrome

A

Autosomal recessive

43
Q

What is the mnemonic for hurler syndrome

A

Hurlers ran around slowly, they cant see or breathe

Ran around slowly: developmental delay
Cant see corneal clouding hepatosplenomegaly
Breathe airway obstruction, sleep apnea

Coarse features

44
Q

What is the x ray finding in hurler syndrome

A

Dysostosis multiplex

Enlarged skull, abnormal ribs

45
Q

Which enzyme is deficient in Hunter syndrome and what molecule accumulates

A

Iduronate 2 sulfatase, heparan sulfate and dermatan sulfate accumulation

46
Q

Which type of genetic disorder is Hunter syndrome

A

X linked

47
Q

What is the mnemonic for hunter syndrome

A

There are aggressive hunters who can clearly see and hit the x with their arrows

Mild hurler, but no corneal clouding and aggressive personalities, trouble sitting down, behavioral problems, learning disability

48
Q

What is the onset of hunter and hurler

A

Hurler eariler than hunter which 1-2 years

Biochemistry (11 decks)

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