Lysosomal Storage Diseases

Question 1

Name the Sphingolipidoses Lysosomal Storage Disease

Answer 1

Tay-Sachs
Gauchers
Metachromatic Leukodystrophy
Fabry Disease
Krabbe Disease
Niemann-Pick Disease

Question 2

What Enzyme is Deficient in Tay-Sachs Disease

Answer 2

Hexosaminidase A

Question 3

What Enzyme is Deficient in Gauchers Disease

Answer 3

Glucocerebrosidase

Question 4

What Enzyme is Deficient in Metachromatic Leukodystrophy

Answer 4

Arylsufatase A

Question 5

What Enzyme is Deficient in Fabry Disease

Answer 5

a-galactosidase A

Question 6

What Enzyme is Deficient in Krabbe Disease

Answer 6

Galactocerebrosidase

Question 7

What Enzyme is Deficient Niemann-Pick Disease

Answer 7

Sohingomyelinase

Question 8

What Substance Accumulates in Tay-Sachs Disease

Answer 8

Ganglioside GM2

Question 9

What Substance Accumulates in Gauchers Disease

Answer 9

Glucocerebroside

Question 10

What Substance Accumulates in Metachromatic Leukodystrophy

Answer 10

Sulfatides

Question 11

What Substance Accumulates in Fabry Disease

Answer 11

Ceramide Trihexoside

Question 12

What Substance Accumulates in Krabbe Disease

Answer 12

Galactocerebroside

Question 13

What Substance Accumulates in Niemann-Pick

Answer 13

Sphingomyelin

Question 14

How Does Tay-Sachs Present?

Answer 14

Progressive neurodegeneration, blindness, red spot on macula, early death

Question 15

How does Gauchers Present?

Answer 15

Hepatosplenomegaly, erosion of femur, lipid-laden macrophages

Question 16

How does Metachromatic Leukodystophy Present?

Answer 16

Demylination, dementia, early death

Question 17

How does Fabry Disease Present?

Answer 17

X-linked-more common in boys than girls, peripheral neuropathy, progressive renal failure.

Question 18

How Does Krabbe Disease Present?

Answer 18

peripheral neuropathy, loss of oligodendrocytes, optic atrophy, early death.

Question 19

How Does Niemann-Pick Disease Present?

Answer 19

Progressive neurodegeneration, blindness, red spot on macula, hepatosplenomegaly, lipid-laden macrophages, early death.

Question 20

What is the key clinical finding that differentiates Tay-Sachs Disease from Niemann-Pick Disease

Answer 20

Niemann-Pick Disease will present with hepatosplenomegaly while Tay-Sachs will not.

Question 21

Which Lysosomal Storage Diseases are X-Linked?

Answer 21

Fabry’s Disease
I-Cell

Question 22

Name the Mucopolysaccharidoses Lysosomal Storage Diseases.

Answer 22

Hurler Syndrome (MPS I)
Hunter Syndrome (MPS II)

Question 23

What Enzyme is deficient in Hunter Syndrome?

Answer 23

Iduronate sulfatase

Question 24

What Enzyme is deficient in Hurler Syndrome?

Answer 24

a-L-iduronidase

Question 25

Which Mucopolysaccharidoses is more mild?

Answer 25

Hunter Syndrome is MORE mild than Hurler Syndrome.

Question 26

What substance accumulates in Hurler Syndrome?

Answer 26

Heparan Sulfate, dermatan sulfate

Question 27

What substance accumulates in Hunter Syndrome?

Answer 27

Heparan Sulfate, dermatan sulfate

Question 28

How does Hurler Syndrome Present?

Answer 28

Crude or "unusual Facial Features," developmental delay, cloudy corneas, heart valve problems, joint stiffness, hepatosplenomegaly, X-linked.

Question 29

How does Hunter Syndrome Present?

Answer 29

Aggressive behavior, intellectual disability, joint stiffness, jerky movements.

Question 30

Name a glycogen storage disease

Answer 30

Pompe Disease (Glycogen Storage Disease Type II)

Question 31

What enzyme is deficient in Pompe Disease?

Answer 31

a-1,4-glucosidase (Acid Maltase)

Question 32

Name a mucolipidosis?

Answer 32

I-Cell Disease (Mucolipidosis II)

Question 32

What Happens in Pompe Disease?

Answer 32

Loss of enzyme results in an inability to break down glycogen that was captured during lysosomal autphagy-commonly in liver and muscles. Lysosomes are packed with glycogen

Question 33

How does I-Cell Disease Present

Answer 33

Presents like Hurler Disease Coarse/"Unusual Facial Features," abnormal skeletal development, restricted joint movement, corneal clouding, severe intellectual disabilities.

Question 34

What enzyme miss-functions in I-Cell Disease?

Answer 34

Mannose is not phosphorylated by N-Acetuylglucosamine-1-phosphate transferase Vesicles filled with acid hydrolases are transported out of cell instead to Lysosome

Question 35

What is unique about I-Cell Presentation?

Answer 35

Blood will have high-levels of lysosomal enzymes in it.

Question 36

What tissue does sphingolipidoses most affect?

Answer 36

Brain and Neuronal Tissue

Question 37

Histologically How does I-Cell Disease Present?

Answer 37

Leukocytes have a large number of inclusion bodies (vesicles filled with lysosomal hydrolyses) Lysosomes will be filled with varies debris as they cannot break anything down.

Question 38

What presents first in Pompe Disease?

Answer 38

Children will have muscle dysfunction followed by hepatic dysfunction.

Question 39

Histologically how does Pompe Disease present?

Answer 39

Pompe Disease presents as cells (muscle cells) filled with white dots (vesicles filled with glycogen).