Lysosomal Storage Diseases

Question 0

Gaucher disease - major category

Answer 0

Sphingolipidoses (membranes)

Question 1

Gaucher disease - deficient enzyme & accumulated substrate

Answer 1

Glucocerebrosidase, glucocerebroside

Question 2

Glucocerebrosidase - what does it do?

Answer 2

Cleaves glu from ceramide

Question 3

Gaucher disease prevalent in what population?

Answer 3

Easter European Jews

Question 4

Gaucher’s cells appearance

Answer 4

Not vacuolated, fibrillary cytoplasm (crinkled tissue paper). EM - stacks of lipid in lysosomes

Question 5

Type I gaucher disease : population, amount of enzyme

Answer 5

Adult, non neurotropic, decrease in enzyme

Question 6

Type I Gaucher’s disease: clinical picture

Answer 6

Enlarged liver and spleen*** , low platelet count, anemia, low WBC, bone thinning

Question 7

Type II Gaucher’s disease: population, neuro?

Answer 7

Infantile, neurotropic, not Jewish

Question 8

Type II Gaucher’s disease : enzyme activity & prognosis

Answer 8

No enzyme, die young

Question 9

Type III Gaucher’s disease : clinical picture

Answer 9

Intermediate, juveniles develop CNS disease 20’s or 30’s

Question 10

Tay Sachs Disease - category

Answer 10

Sphingolipidoses

Question 11

Tay Sachs - population

Answer 11

Ashkenazi Jews

Question 12

Tay Sachs disease - deficient enzyme, accumulated substrate

Answer 12

Hexosaminidase A , GM2 ganglioside

Question 13

Tay Sachs - organs affected

Answer 13

CNS & retina (cherry red spot)

Question 14

Tay Sachs appearance under microscope

Answer 14

Neurons w cytoplasmic vacuoles, lysosome onion

Question 15

Tay Sachs clinical picture

Answer 15

At 6 mo motor and brain retardation, flaccid muscle, blindness,

Question 16

Tay Sachs prognosis

Answer 16

Die by 2 - 3 yo

Question 17

Antenatal diagnosis for Tay Sachs

Answer 17

Hex A from amniotic fluid

Question 18

Niemann- Pick disease category

Answer 18

Sphingolipidoses

Question 19

Niemann- Pick Disease: deficient enzyme, accumulated substrate

Answer 19

Sphingomyelinase, sphingomyelin and cholesterol

Question 20

Sphingomyelinase function

Answer 20

Remove phosphotyl choline

Question 21

Niemann- Pick Disease organs affected

Answer 21

Spleen liver lymph nodes, bone marrow, GI

Question 22

Niemann-pick disease type A - neuro or no neuro

Answer 22

Brain involved. Poor prognosis

Question 23

Niemann-Pick disease type B : neuro or no neuro

Answer 23

No CNS involvement

Question 24

Niemann- Pick disease : histology

Answer 24

Macrophages foamy, EM - zebra bodies

Question 25

Niemann-Pick Disease : clinical picture

Answer 25

By 6 month, big abdomen, motor deterioration, skin Xanthomas (bc cholesterol accumulates)

Question 26

Niemann-Pick disease prognosis

Answer 26

Early death

Question 27

Niemann-pick disease - prenatal screening?

Answer 27

Available

Question 28

Hurlers syndrome: deficient enzyme, accumulated substance

Answer 28

Alpha-L-iduronidase, Heparan and dermatan sulfate

Question 29

Hurlers syndrome category

Answer 29

Mucopolysaccharidoses (MPS)

Question 30

Hurler syndrome etiology of accumulated substance

Answer 30

Ground substance (GAG) of connective tissue

Question 31

Hurlers syndrome - organs affected

Answer 31

Hepatosplenomegaly, heart problems (MI), brain

Question 32

Hurlers syndrome histology

Answer 32

Balloon cells, EM - zebra bodies

Question 33

Hurlers syndrome clinical picture

Answer 33

Skeletal deformity, enlarged liver and spleen, faulty heart valves, problem w growth

Question 34

Hurlers syndrome - prenatal screen?

Answer 34

Available