Lysosomal Storage Diseases

Question 1

What is the most common lysosomal storage disease?

Answer 1

Gaucher Disease

Question 2

What are some common signs of lysosomal storage diseases?

Answer 2

• Organomegaly
• Unexplained joint stiffness
• Pain in children
• Developmental delay

Question 3

Gibbus

Answer 3

• Structural kyphosis

- Sharply angled spinal curve

Question 4

A study which can be used to determine if the individual has an MPS disorder is.

A. Serum amino acids
B. Urine organic acids
C. Urine for glycosaminoglycans
D. Lactic acid
E. Serum Carnitine

Answer 4

C. Urine for glycosaminoglycans

Question 5

What is the inheritance of Hurler Syndrome?

Answer 5

Autosomal Recessive

Question 6

What is the defect in Hurler Syndrome (MSP1)?

Answer 6

Deficiency in alpha-1-iduronidase in MPSI

Question 7

What are some of the common manifestations of Hurler syndrome?

Answer 7

• Glaucoma
• Chronic rhinitis
• Otitis media
• Cardiomyopathy

Question 8

What is the most common cause of death in Hurler syndrome?

Answer 8

Cardiovascular Diseases

Question 9

What will be elevated in the urine of patients with MPS1 or MPS2?

Answer 9

Dermatin and Heparin Sulfate

Question 10

What is the treatment for MSP1 and MSP2?

Answer 10

Enzyme replacement with laronidase

Question 11

What is the drawback of laronidase?

Answer 11

It does not cross the BBB so it cannot treat mental delays

Question 12

What is the inheritance of Hunter syndrome (MSP2)

Answer 12

X-linked recessive

Question 13

What gender is Hunter syndrome seen in?

Answer 13

Only males - female carriers are asymptomatic

Question 14

What is the enzyme deficiency in Hunter syndrome?

Answer 14

Iduronate Synthetase

Question 15

What is the inheritance of Sanfillippo syndrome (MSP3)?

Answer 15

Autosomal recessive

Question 16

What are some of the features of Sanfillipo syndrome?

Answer 16

• ONLY heparin sulfate elevated in urine
• No joint pain
• Severe hepatosplenomegaly

Question 17

What are the features of Morquio syndrome (MSP7)?

Answer 17

• Severe skeletal anomalies
• Intelligence is normal
• Urine elevation of keratin sulfate

Question 18

What is the inheritance of Morquio syndrome?

Answer 18

Autosomal recessive

Question 19

What is the inheritance of Fabry’s syndrome?

Answer 19

X-linked dominant

Question 20

What is the deficiency in Fabry disease?

Answer 20

Alpha galactosidase A

Question 21

In Fabry disease the most common cause of death is

a. Stroke
b. Renal Failure
c. Myocardial Infarction
d. Leukemia
e. Hyperthermia

Answer 21

c. Myocardial Infarction

Question 22

What is the treatment for Fabry disease?

Answer 22

Enzyme replacement with fabrazyme

Question 23

What is the inheritance of Gaucher disease?

Answer 23

Autosomal recessive

Question 24

What are these features indicative of?

 Fatigue
 Thrombocytopenia
 Hepatomegaly
 Growth retardation
 Pathologic bone crisis
 Neurologic degeneration

Answer 24

Gaucher disease

Question 25

What is the enzyme deficiency in Gaucher disease?

Answer 25

Glucocerebroside

Question 26

What is the significant finding in Pompe disease?

Answer 26

Cardiomyopathy - cardiomegaly is found in over 90% of infants by 4 months

Question 27

What is the mutation in Tay Sachs disease?

Answer 27

Hexosaminidase A mutation

Question 28

What is the inheritance of Tay Sachs?

Answer 28

Autosomal recessive

Question 29

What population carries Tay Sachs at an increased frequency?

Answer 29

Ashkenazi Jewish population

Question 30

What is the inheritance of Nieman Pick?

Answer 30

Autosomal recessive