Glycogen/ Lysosomal storage diseases

Question 1

von gierke disease deficiency

Answer 1

glucose-6-phosphatase

Question 2

Pompe disease deficiency

Answer 2

lysosomal alpha-1,4-glucosidase

Question 3

Cori disease deficiency

Answer 3

debranching enzyme

Question 4

McArdle disease deficiency

Answer 4

skeletal muscle glycogen phosphorylase

Question 5

severe fasting hypoglycemia, high glycogen in the liver, hepatomegaly

Answer 5

von gierke disease

Question 6

treatment for von gierke

Answer 6

oral glucose and cornstarch

Question 7

cardiomyopathy, liver disease, and muscle problems early in life

Answer 7

pompe disease

Question 8

milder form of von gierke disease

Answer 8

Cori disease

Question 9

increased glycogen in muscle, cant break it down

painful cramps, myoglobinuria with strenuous exercise

Answer 9

McArdle disease

Question 10

How are the glycogen storage disorders inherited?

Answer 10

all AR

Question 11

fabry disease deficiency

Answer 11

alpha-galactosidase A

Question 12

Fabry disease accumulation

Answer 12

ceramide trihexoside

Question 13

Gaucher disease deficiency

Answer 13

glucocerebrosidase

Question 14

Gaucher disease accumulation

Answer 14

glucocerebroside

Question 15

Neimann Pick disease deficiency

Answer 15

sphingomyelinase

Question 16

Neimann pick disease accumulation

Answer 16

sphingomyelin

Question 17

Tay Sachs disease deficiency

Answer 17

hexosaminidase A

Question 18

Tay Sachs disease accumulation

Answer 18

GM2 ganglioside

Question 19

Krabbe disease deficiency

Answer 19

galactocerebrosidase

Question 20

Krabbe disease accumulation

Answer 20

galactocerebroside, psychosine

Question 21

Metachromatic leukodystrophy deficiency

Answer 21

arylsulfatase A

Question 22

Metachromatic leukodystrophy accumulation

Answer 22

cerebroside sulfate

Question 23

Hurler syndrome deficiency

Answer 23

alpha-L-iduronidase

Question 24

Hurler syndrome accumulation

Answer 24

heparan sulfate, dermatan sulfate

Question 25

Hunter syndrome deficiency

Answer 25

iduronate sulfatase

Question 26

Hunter syndrome accumulation

Answer 26

heparan sulfate, dermatan sulfate

Question 27

peripheral neuropathy of hands/ feet, angiokeratomas, CV/ renal disease

Answer 27

Fabry disease

Question 28

MC lysosomal storage disease

Answer 28

Gaucher disease

Question 29

hepatomegaly, pancytopenia, aseptic necrosis of the femur, bone crisis with lipid-laden macrophages

Answer 29

Gaucher disease

Question 30

hepatosplenectomy, cherry red spot on macula, foam cells

Answer 30

Niemann-Pick disease

Question 31

progressive neurodegeneration, developmental delay, cherry red spot on macula, no hepatosplenomegaly

Answer 31

Tay-Sachs disease

Question 32

peripheral neuropathy, developmental delay, optic atrophy

Answer 32

Krabbe disease

Question 33

Difference between Krabbe and Fabry

Answer 33

both have peripheral neuropathy
Fabry: CV/renal manifestations
Krabbe: developmental delay and optic atrophy

Question 34

central and peripheral demyelination with ataxia and dementia

Answer 34

Metachromatic leukodystrophy

Question 35

developmental delay, course facial features, corneal clouding, hepatosplenomegaly

Answer 35

Hurler syndrome

Question 36

some developmental delay, course facial features, and hepatosplenomegaly with aggressive behavior

Answer 36

Hunter Syndrome

Question 37

Which lysosomal storage diseases are X linked?

Answer 37

Hunter’s syndrome and Fabry disease

Question 38

What diseases have a higher incidence in Ashkenazi jews?

Answer 38

Tay-Sachs, Niemann-Pick, Gaucher disease