Lysosomal Storage Diseases

Question 1

What are ceramides?

Answer 1

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

Question 2

What is the mnemonic for fabry disease?

Answer 2

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

Question 3

When does fabry present

Answer 3

Early childhood to adulthood

Question 4

What is the classic presentation of fabry disease

Answer 4

Pain in leg/ feet
Lack of sweat
Skin findings

Question 5

What are angiokeratomas

Answer 5

Raised small reddish bluish spots, dilated surface capillaries

Question 6

What is the structure of ceramide trihexoside

Answer 6

Ceramide-glucose-galactose-galactose

Question 7

Ceramide trihexoside is broken down by

Answer 7

Alpha glucosidase

Question 8

What is the mnemonic for gaucher?

Answer 8

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)

Question 9

What is the bone crisis?

Answer 9

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

Question 10

What type of genetic disorder is gaucher disease

Answer 10

Autosomal recessive

Question 11

Which lysosomal storage disease is the most common

Answer 11

Gaucher

Question 12

Gaucher disease presents most in which population

Answer 12

Ashkenazi jewish

Question 13

How many types of gaucher are there

Answer 13

Three types

Question 14

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

Answer 14

More cns dysfunction

Less than two

Question 15

When does gaucher disease present

Answer 15

In childhood to adulthood

Question 16

What is the classic presentation of child with gaucher disease

Answer 16

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

Question 17

What is the mnemonic for neimann pick disease

Answer 17

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

Question 18

What type of genetic disorder is neimann pick disease

Answer 18

AR

Question 19

Which population is Neimann pick disease more common in

Answer 19

Ashkenazi jewish

Question 20

What is the classic presentation of neimann pick disease

Answer 20

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

Question 21

What is the mnemonic for krabbe disease

Answer 21

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

Question 22

What type of genetic disorder is krabbe disease

Answer 22

AR

Question 23

In krabbe disease, what is the developmental delay?

Answer 23

Floppy hands, cant turn head, absent reflexes

Question 24

When does krabbe disease present

Answer 24

After 6 months, death before 2 years of age

Question 25

What is the structure of galactocerebroside and glucocerebroside

Answer 25

Ceramide-galactose | Ceramide-glucose

Question 26

What is the structure of GM2 ganglioside

Answer 26

Ganglioside Ceramide trihexoside plus NANA

Question 27

Which type of genetic disorder is Tay Sachs disease

Answer 27

AR

Question 28

What is mnemonic for tay sach disease

Answer 28

“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 ```

Question 29

When does tay sachs disease present

Answer 29

3-6 months of age, death before 2

Question 30

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

Answer 30

Weakness, exaggerated startle reaction, seizures, paralysis

Question 31

What is the presentation of tay sach disease

Answer 31

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

Question 32

How to distinguish between tay sach and neimann pick

Answer 32

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

Question 33

What is the mneomic for metachromatic luekodystrophy

Answer 33

“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

Question 34

Which type of genetic disorder is metachromatic leukodystrophy

Answer 34

AR

Question 35

What is the structure of sulfatides

Answer 35

Galactocerebroside plus sulfuric acid

Question 36

Sulfatides are a central part of what structure

Answer 36

Myelin

Question 37

When does metachromatic luekodystrophy develop

Answer 37

After two years of age, death before childhood

Question 38

GAGs are also called

Answer 38

Mucopolysaccharides

Question 39

The repeating disaccharide sugars of GAGs consists of

Answer 39

Amino sugar and uronic acid

Question 40

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

Answer 40

They have L iduronate

Question 41

Which enzyme is deficient in hurler syndrome and which substances accumulate

Answer 41

Alpha L iduronidase | Herparan sulfate and dermatan sulfate

Question 42

Which genetic type disorder is hurler syndrome

Answer 42

Autosomal recessive

Question 43

What is the mnemonic for hurler syndrome

Answer 43

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

Question 44

What is the x ray finding in hurler syndrome

Answer 44

Dysostosis multiplex Enlarged skull, abnormal ribs

Question 45

Which enzyme is deficient in Hunter syndrome and what molecule accumulates

Answer 45

Iduronate 2 sulfatase, heparan sulfate and dermatan sulfate accumulation

Question 46

Which type of genetic disorder is Hunter syndrome

Answer 46

X linked

Question 47

What is the mnemonic for hunter syndrome

Answer 47

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

Question 48

What is the onset of hunter and hurler

Answer 48

Hurler eariler than hunter which 1-2 years