Foundations Diseases

Question 1

I cell disease defect

Answer 1

Deficiency in mannose phosphorylation

No m-6-p to target lysosomal proteins –> secretion out of the cell instead of into lysosomes

Question 2

I cell disease features

Answer 2

Coarse facial features
Clouded corneas
Restricted joint movement
High plasma levels of lysosomal enzymes
Death by age 8

Question 3

Hunter syndrome

Answer 3

Mucopolysaccharidosis - XR

Question 4

Hurler syndrome

Answer 4

Mucopolysaccharidosis - AR

Question 5

What enzyme is deficient in Hurler syndrome

Answer 5

alpha-L-iduronidase

Question 6

What are the symptoms of Hurler syndrome

Answer 6

Developmental delay
Gargoylism
Airway obstruction
Corneal clouding
Hepatosplenomegaly

Question 7

What enzyme is deficient in Hunter syndrome

Answer 7

Iduronate sulfatase

Question 8

What are the symptoms of Hunter syndrome

Answer 8

Mild Hurler syndrome, with aggressive behavior

No corneal clouding

Question 9

What are the differences between Hurler and Hunter syndrome?

Answer 9

Hurler is AR and has corneal clouding

Hunter is XR and has aggressive behavior, no corneal clouding

Question 10

What enzyme is deficient in fabry disease?

Answer 10

alpha-galactosidase A

Question 11

What accumulates in fabry disease

Answer 11

Ceramide trihexosidase

Question 12

Findings in fabry disease

Answer 12

Peripheral neuropathy (acroparesthesia), angiokeratomas, cardiovascular/renal disease
XR

Question 13

What enzyme is deficient in gaucher disease

Answer 13

beta-glucosidase (glucocerebrosidase)

Question 14

What accumulates in gaucher disease

Answer 14

Glucocerebroside

Question 15

Most common sphingolipiosis

Answer 15

Gaucher

Question 16

Findings in gaucher disease

Answer 16

HSM, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells
AR

Question 17

What is a gaucher cell

Answer 17

Lipid-laden macrophages that look like crumpled tissue paper, found in gaucher disease

Question 18

Treatment of gaucher disease

Answer 18

Recombinant glucocerebrosidase

Question 19

what enzyme is deficient in niemann-pick disease

Answer 19

sphingomyelinase

Question 20

what accumulates in niemann-pick disease

Answer 20

sphingomyelin

Question 21

findings in niemann pick disease

Answer 21

progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
AR

Question 22

what enzyme is deficient in tay sachs

Answer 22

Hexosaminidase A

Question 23

what accumulates in tay sachs

Answer 23

GM2 ganglioside

Question 24

findings in tay sachs

Answer 24

progressive neurodegeneration, developmental delay, cherry red macula spot, lysosomes with onion skin
AR

Question 25

what lysosomal storage diseases have cherry red spot on macula

Answer 25

tay sachs and niemann pick

Question 26

what is a major difference b/w tay sachs and niemann pick

Answer 26

tay sachs has no hepatosplenomegaly

niemann pick has

Question 27

what is deficient in krabbe disease

Answer 27

galactocerebrosidase

Question 28

what accumulates in krabbe disease

Answer 28

galactocerebroside and psychosine

Question 29

findings in krabbe disease

Answer 29

peripheral neuropathy, developmental delay, optic atrophy, globoid cells
AR

Question 30

what is deficient in metachromic leukodystrophy

Answer 30

arylsulfatase A

Question 31

what accumulates in metachromatic leukodystrophy

Answer 31

cerebroside sulfate

Question 32

findings in metachromatic leukodystrophy

Answer 32

central and peripheral demyelination with ataxia, dementia

AR