Glycogen and Lysosomal Storage Diseases

Question 1

4 glycogen storage diseases

Answer 1

Von Gierke, Pompe, Cori, McArdle

Question 2

Severe fasting hypoglycemia, glycogen in liver, increased blood lactate, hepatomegaly

Answer 2

Von Gierke

Question 3

Cardiomyopathy & systemic findings (liver, muscle) leading to early death

Answer 3

Pompe

Question 4

Fasting hypoglycemia, glycogen in liver, hepatomegaly, NORMAL lactate levels

Answer 4

Cori

Question 5

Increased glycogen in muscle, but can break it down, leading to painful muscle cramps with myoglobinuria (red urine) with strenuous exercise and arrhythmia from electrolyte abnormalities

Answer 5

McArdle

Question 6

DE von gierke

Answer 6

Glucose-6-phophatase

Question 7

DE pompe

Answer 7

lysosomal alpha-1,4-glycosidase (acid maltase)

Question 8

DE cori

Answer 8

debranching enzyme (alpha-1,6-glucosidase)

Question 9

DE mcardle

Answer 9

skeletal muscle glycogen phosphorylase (myophophorylase)

Question 10

CP von gierke

Answer 10

Severe fasting hypoglycemia, glycogen in liver, increased blood lactate, hepatomegaly

Question 11

CP pompe

Answer 11

Cardiomyopathy & systemic findings (liver, muscle) leading to early death

Question 12

CP cori

Answer 12

Fasting hypoglycemia, glycogen in liver, hepatomegaly, NORMAL lactate levels

Question 13

CP mcardle

Answer 13

Increased glycogen in muscle, but can break it down, leading to painful muscle cramps with myoglobinuria (red urine) with strenuous exercise and arrhythmia from electrolyte abnormalities

Question 14

Peripheral neuropathy of hands/feet,
angiokeratomas, cardiovascular/renal
disease

Answer 14

Fabry

Question 15

Hepatomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (lipid-laden macrophages resembling tissue paper).

Answer 15

Gaucher

Question 16

Progressive neurodegeneration, hepatomegaly, cherry red spot on macula, foam cells (lipid-laden macrophages)

Answer 16

Niemann-Pick

Question 17

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatomegaly

Answer 17

Tay-Sachs

Question 18

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 18

Krabbe

Question 19

Central and peripheral demyelination with ataxia, dementia

Answer 19

Metachromic leukodystrophy

Question 20

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Answer 20

Hurler syndrome

Question 21

developmental delay, gargoylism, airway obstruction, aggressive behavior, NO corneal clouding

Answer 21

Hunter

Question 22

DE fabry

Answer 22

alpha-galactosidase A

Question 23

DE gaucher

Answer 23

glucocerebrosidase (beta glucosidase)

Question 24

DE neimann-pick

Answer 24

sphingomyelinase

Question 25

DE tay sachs

Answer 25

hexosaminidase A

Question 26

DE krabbe

Answer 26

galactocerebrosidase

Question 27

DE metachromatic leukodystrophy

Answer 27

Arylsulfatase A

Question 28

DE Hurler

Answer 28

alpha-L-iduronidase

Question 29

DE Hunter

Answer 29

iduronate sulfatase

Question 30

AS fabry

Answer 30

ceramide trihexoside

Question 31

AS gaucher

Answer 31

glucocerebroside

Question 32

AS neimann-pick

Answer 32

sphingomyelin

Question 33

AS tay-sachs

Answer 33

GM2 ganglioside

Question 34

AS krabbe

Answer 34

Galactocerebroside, psychosine

Question 35

AS metachromatic leukodystrophy

Answer 35

Ceroside sulfate

Question 36

AS Hurler syndrome

Answer 36

Heparan sulfate, dermatan sulfate

Question 37

AS Hunter syndrome

Answer 37

Heparan sulfate, dermatan sulfate

Question 38

What lysosomal storage diseases are XR?

Answer 38

Fabry and Hunter

Question 39

Spingolipidoses

Answer 39

Fabry, Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy

Question 40

Mucopolysaccharidoses

Answer 40

Hurler and Hunter