Glycogen and Lysosomal Storage Diseases

Question 1

What is glycogen storage disease type I?

Answer 1

Von Gierke disease

Question 2

What is glycogen storage disease type II?

Answer 2

Pompe disease

Question 3

What is glycogen storage disease type III?

Answer 3

Cori disease

Question 4

What is glycogen storage disease type V?

Answer 4

McArdle disease

Question 5

What is the inheritance pattern for the glycogen storage diseases?

Answer 5

Autosomal Recessive

Question 6

Severe fasting hypoglycemia with increased glycogen in the liver, hepatomegaly and increased blood lactate

Answer 6

Von Gierke disease

Question 7

What is the deficient enzyme in Von Gierke disease?

Answer 7

Glucose-6-phosphatase, which catalyzes the last step of both glycogenolysis and gluconeogenesis

Question 8

What is the treatment for Von Gierke disease?

Answer 8

Frequent oral glucose or cornstarch + Avoidance of fructose and galactose

Question 9

Cardiomyopathy leading to early death

Answer 9

Pompe disease

Question 10

What is the deficient enzyme in Pompe disease?

Answer 10

Lysosomal alpha-1,4-glucosidase

Question 11

Mild fasting hypoglycemia with increased glycogen in the liver, hepatomegaly, and normal blood lactate levels

Answer 11

Cori diease

Question 12

What is the defective enzyme in Cori disease?

Answer 12

Debranching enzyme (Alpha-1,6-glucosidase)

Question 13

Increased glycogen in the muscle which is not utilized, painful muscle cramps, myoglobinuria with exercise and arrhythmia

Answer 13

McArdle disease

Question 14

What is the defective enzyme in McArdle disease?

Answer 14

Skeletal muscle glycogen phosphorylase

Question 15

Name the 6 sphingolipidoses

Answer 15

1. Fabry disease
2. Gaucher diease
3. Niemann-Pick disease
4. Tay-Sachs disease
5. Krabbe disease
6. Metachromatic leukodystrophy

Question 16

Name the 2 mucopolysaccharidoses

Answer 16

1. Hurler syndrome

2. Hunter syndrome

Question 17

How are the sphingolipidoses and mucopolysaccharidoses inherited?

Answer 17

Autosomal recessive except: Fabry and Hunter are X-linked recessive

Question 18

Painful peripheral neuropathy of hands and feet, angiokeratomas (tiny painless papules on the butt and goin), cardiovascular disease leading to GI ischemia and renal failure

Answer 18

Fabry disease

Question 19

What is the defective enzyme in Fabry disease?

Answer 19

Alpha-galactosidase A

Question 20

What is the accumulated substrate in Fabry disease?

Answer 20

Ceramide trihexoside

Question 21

Hepatosplenomegaly, pancytopensia, necrosis of the femur and lipid-laden macrophages

Answer 21

Gaucher disease

Question 22

What is the defective enzyme in Gaucher disease?

Answer 22

Glubocerebrosidase

Question 23

What is the accumulated substrate in Gaucher disease?

Answer 23

Glucocerebroside

Question 24

Progressive decline in cognitive and motor function, hepatoslenomegaly, “cherry red spot” on the macula, foam cells

Answer 24

Niemann-Pick disease

Question 25

What is the defective enzyme in Niemann-Pick disease?

Answer 25

Sphingomyelinase

Question 26

What is the accumulated substrate in Niemann-Pick disease?

Answer 26

Sphingomyelin

Question 27

Progressive decline in cognitive and motor function, "cherry red spot" on the macula, onion skin lysosomes

Answer 27

Tay-Sachs diease

Question 28

What is the defective enzyme in Tay-Sachs disease?

Answer 28

Hexosaminidase A

Question 29

What is the accumulated substrate in Tay-Sachs disease?

Answer 29

GM2 ganglioside

Question 30

Peripheral neuropathy, seizures, developmental delays, optic atrophy and globoid cells

Answer 30

Krabbe disease

Question 31

What is the defective enzyme in Krabbe disease?

Answer 31

Galactocerebrosidase

Question 32

Central and peripheral demyelination with ataxia and dementia

Answer 32

Metachromatic leukodystrophy

Question 33

Developmental delays, airway obstruction, corneal clouding, hepatosplenomegaly

Answer 33

Hurler syndrome

Question 34

What is the defective enzyme in Hurler syndrome?

Answer 34

Alpha-L-iduronidase

Question 35

What accumulates in Hurler syndrome?

Answer 35

Heparan sulfate, dermatan sulfate

Question 36

Mild developmental delays, hepatosplenomegaly and aggressive behavior

Answer 36

Hunter syndrome

Question 37

What is the defective enzyme in Hunter syndrome?

Answer 37

Iduronate sulfatase

Question 38

What accumulates in Hunter syndrome?

Answer 38

Heparan sulfate, dermatan sulfate