Lysosomal Storage Diseases Flashcards Preview

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Flashcards in Lysosomal Storage Diseases Deck (30):
1

What is the most common lysosomal storage disease?

Gaucher Disease

2

What are some common signs of lysosomal storage diseases?

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

3

Gibbus

- Structural kyphosis
- Sharply angled spinal curve

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

C. Urine for glycosaminoglycans

5

What is the inheritance of Hurler Syndrome?

Autosomal Recessive

6

What is the defect in Hurler Syndrome (MSP1)?

Deficiency in alpha-1-iduronidase in MPSI

7

What are some of the common manifestations of Hurler syndrome?

- Glaucoma
- Chronic rhinitis
- Otitis media
- Cardiomyopathy

8

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

Cardiovascular Diseases

9

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

Dermatin and Heparin Sulfate

10

What is the treatment for MSP1 and MSP2?

Enzyme replacement with laronidase

11

What is the drawback of laronidase?

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

12

What is the inheritance of Hunter syndrome (MSP2)

X-linked recessive

13

What gender is Hunter syndrome seen in?

Only males - female carriers are asymptomatic

14

What is the enzyme deficiency in Hunter syndrome?

Iduronate Synthetase

15

What is the inheritance of Sanfillippo syndrome (MSP3)?

Autosomal recessive

16

What are some of the features of Sanfillipo syndrome?

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

17

What are the features of Morquio syndrome (MSP7)?

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

18

What is the inheritance of Morquio syndrome?

Autosomal recessive

19

What is the inheritance of Fabry's syndrome?

X-linked dominant

20

What is the deficiency in Fabry disease?

Alpha galactosidase A

21

In Fabry disease the most common cause of death is

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

c. Myocardial Infarction

22

What is the treatment for Fabry disease?

Enzyme replacement with fabrazyme

23

What is the inheritance of Gaucher disease?

Autosomal recessive

24

What are these features indicative of?

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

Gaucher disease

25

What is the enzyme deficiency in Gaucher disease?

Glucocerebroside

26

What is the significant finding in Pompe disease?

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

27

What is the mutation in Tay Sachs disease?

Hexosaminidase A mutation

28

What is the inheritance of Tay Sachs?

Autosomal recessive

29

What population carries Tay Sachs at an increased frequency?

Ashkenazi Jewish population

30

What is the inheritance of Nieman Pick?

Autosomal recessive

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