lysosomal storage diseases

Question 1

Tay sachs disease inheritance

Answer 1

AR

Question 2

which enzyme is deficient in tay sachs?

Answer 2

HeXosaminidase A

Question 3

what builds up in tay sachs disease?

Answer 3

GM2

Question 4

presentation of tay sachs disease?

Answer 4

hyeracusis, hyperreflexia, cherry red spot, progressive neurodegeneration, lysosomes with onion skin

Question 5

does tay sachs disease have hepatomegaly?

Answer 5

NOOO

Question 6

inheritance of fabrys disease?

Answer 6

X linked recessive

Question 7

which enzyme is deficient in fabrys disease?

Answer 7

alpha galactosidase A

Question 8

what builds up in fabrys disease?

Answer 8

globotriaosylceramine (ceramide trihexoside)

Question 9

presentation of fabrys disease?

Answer 9

episodic neuropathy, angiokeratomas, hypohidrosis

renal and heart disease later on

Question 10

Gauchers disease inheritance?

Answer 10

AR

Question 11

what is deficient in Gauchers disease?

Answer 11

glucocerebrosidase

Question 12

what builds up in Gauchers disease?

Answer 12

glucocerebroside

Question 13

presentation of gauchers disaese?

Answer 13

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crisis, gaucher cells

Question 14

Neimann-pick disease inheritance?

Answer 14

AR

Question 15

what is deficient in Neimann-pick disease?

Answer 15

sphingomyelinase

Question 16

what builds up in Neimann-pick disease?

Answer 16

sphingomyelin

Question 17

presentation of Neimann-pick disease?

Answer 17

Hepatosplenomegaly, cherry red spot, neurodegeneration, foam cells

Question 18

Inheritance of metachromatic leukodystrophy?

Answer 18

AR

Question 19

What is deficient in metachromatic leukodystrophy?

Answer 19

arylsulfatase A

Question 20

what builds up in metachromatic leukodystrophy?

Answer 20

sulfatides

Question 21

presentation of metachromatic leukodystrophy?

Answer 21

central and peripheral demyelination with ataxia and dementia

Question 22

inheritance of krabbe disease?

Answer 22

AR

Question 23

what is deficient in krabbe disease?

Answer 23

galactocerebrosidase

Question 24

what builds up in krabbe disease??

Answer 24

galactocerebroside

Question 25

presentation of krabbe disease?

Answer 25

peripheral neuropathy, destruction of oligodendrocytes, optic atrophy, globoid cells

Question 26

Which two lysosomal storage diseases have a cherry red spot?

Answer 26

Tay sachs and neimann-pick disease

Question 27

which lysosomal storage disease has crinkled tissue paper cells?

Answer 27

gauchers

Question 28

which lysosomal storage disease is X linked recessive?

Answer 28

Fabrys

Question 29

which lysosomal storage disease has globoid cells?

Answer 29

Krabbe disease

Question 30

what are the two mucopolysaccharidoses?

Answer 30

Hunters and Hurlers

Question 31

which of the mucopolysaccharidoses is X linked recessive?

Answer 31

Hunters

Question 32

which of the mucopolysaccharidoses is autosomal recessive?

Answer 32

Hurlers

Question 33

which of the mucopolysaccharidoses is associated with aggression?

Answer 33

Hunters

Question 34

which of the mucopolysaccharidoses is associated with corneal clouding?

Answer 34

Hurlers

Question 35

presentation of hurlers?

Answer 35

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

Question 36

presentation of hunters?

Answer 36

mild hurlers + aggression, WITHOUT corneal clouding

Question 37

does hunters have corneal clouding?

Answer 37

no

Question 38

what builds up in the mucopolysaccharidoses?

Answer 38

heparan sulfate and dermatan sulfate