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Flashcards in Lysosomal Storage Diseases Deck (40):
1

Lysosomal Storage Diseases description?

Each is caused by a deficiency in one of the many lysosomal enzymes. Results in an accumulation of abnormal metabolic products

2

What are 6 the sphingolipidoses?

1) Fabry Disease 2) Gaucher Disease 3) Niemann-Pick Disease 4) Tay Sachs Disease 5) Krabbe Disease 6) Metachromatic leukodystrophy

3

What enzyme is deficient in Fabry disease?

alpha-galatosidase A

4

What is the accumulated substrate in Fabry disease?

Ceramide trihexoside

5

What are the findings in Fabry disease?

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. Red macules or papules on abdomen or scrotum

6

What is the inheritance of Fabry disease?

X-linked Recessive

7

What enzyme is deficient in Gaucher Disease?

Glucocerebrosidase (beta-glucosidase)

8

What is the accumulated substrate in Gaucher Disease?

Glucocerebroside

9

Which is the most common lysosomal storage disease?

Gaucher

10

What are the findings in Gaucher Disease?

Hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells

11

What are Gaucher cells?

lipid-laden macrophages resembling crumpled tissue paper

12

What is the treatment of Gaucher disease?

recombinant glucocerebrosidase

13

What is the inheritance of Gaucher disease?

Autosomal Recessive

14

What enzyme is deficient in Niemann-Pick Disease?

Sphingomelinase

15

What substrate is accumulated in Niemann-Pick Disease?

Sphingomyelin

16

What are the findings in Niemann-Pick Disease?

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

17

What is the inheritance of Niemann-Pick Disease?

Autosomal Recessive

18

What enzyme is deficient in Tay-Sachs disease?

Hexosaminidase A

19

What is the accumulated susbstrate in Tay-Sachs?

GM2 ganglioside

20

What are the findings in Tay-Sachs?

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

21

What clinical symptom differentiates Niemann-Pick from Tay-Sachs?

Hepatosplenomegaly is present in Niemann-Pick but NOT Tay-Sachs

22

What enzyme is deficient in Krabbe disease?

Galatocerebrosidase

23

What is the accumulated substrate in Krabbe disease?

Galactocerebroside, psychosine

24

What are the clinical findings in Krabbe disease?

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

25

What is the inheritance of Krabbe Disease?

Autosomal Recessive

26

What enzyme is deficient in Metachromatic Leukodystrophy?

Arylsulfatase A

27

What is the accumulated substrate in Metachromatic Leukoystrophy?

Cerebroside sulfate

28

What are the clinical findings in metachromatic leukodystrophy?

Central and peripheral demyelination with ataxia, dementia

29

What is the inheritance of Metachromatic leukodystrophy?

Autosomal Recessive

30

What are the (2) Mucopolysaccharidoses?

Hurler syndrome & Hunter Syndrome

31

What enzyme is deficient Hurler Syndrome?

alpha-L-iduronidase

32

What is the accumulated substrate in Hurler Syndrome?

Heparan Sulfate, Dermatan Sulfate

33

What are the clinical findings in Hurler Syndrome?

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

34

What enzyme is deficient in Hunter Syndrome?

Iduronate sulfatase

35

What are the accumulated substrates in Hurler syndrome?

Heparan sulfate, dermatan sulfate

36

What are the clinical findings in Hunter Syndrome?

Mild Hurler + aggresive behavior; no corneal clouding

37

What is the inheritance of Hurler Syndrome?

Autosomal Recessive

38

What is the inheritance of Hunter Syndrome?

X-linked Recessive

39

Mneumonic for this shit

NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGer (SPHINGOMYELINASE).
tay-saX lacks heXosamindase
HUNTERS see clearly (no corneal clouding) and aggressively aim for the X (X-linked).

40

Which lysosomal storage diseases have increased incidence in Ashkenazi Jews?

Tay-Sachs, Niemann-Pick, and some forms of Gaucher