Biochem30

Question 1

What are the sphingolipid lysosomal storage diseases? (6)

Answer 1

Fabry's (X-linked recessive)
Gaucher's (AR)
Niemann-Pick (AR)
Tay-Sachs (AR)
Krabbe's (AR)
Metachromatic leukodystrophy (AR)

Question 2

Deficient a-galactosidase A

Answer 2

Fabry’s

Question 3

Deficient Glucocerebrosidase

Answer 3

Gaucher’s

Question 4

Deficient Sphingomyelinase

Answer 4

Niemann-Pick

“No man picks his nose with his SPHINGer (sphingeromylinase)”

Question 5

Deficient Hexosaminidase A

Answer 5

Tay-Sachs

Question 6

Deficient Arylsulfatase A

Answer 6

Metachromatic leukodystropy

Question 7

Deficient a-L-iduronidase

Answer 7

Hurler’s

Question 8

Deficient Iduronate Sulfatase

Answer 8

Hunter’s

Question 9

Accumulation of Ceramide trihexoside.

Answer 9

Fabry’s

Question 10

Accumulation of Glucocerebroside

Answer 10

Gaucher’s

Question 11

Accumulation of Sphingomyelin

Answer 11

Niemann-Pick

Question 12

Accumulation of GM2 Ganglioside

Answer 12

Tay-Sachs

Question 13

Accumulation of Galactocerebroside

Answer 13

Krabbe’s

Question 14

Accumulation of Cerebroside sulfate

Answer 14

Metachromatic leukodystrophy

Question 15

Accumulation of Heparan sulfate & Dermatan Sulfate

Answer 15

Hunter’s & Hurler’s

Question 16

What is the most common lysosomal storage disease?

Answer 16

Gaucher’s

Question 17

Findings in Fabry’s.

Answer 17

Peripheral neuropathy (hands/feet)
Angiokeratomase
CV & renal disease

Question 18

Findings in Gaucher’s.

Answer 18

Hepatosplenomegaly
Aseptic necrosis of femur
Bone crisis

Question 19

What are Graucher’s cells?

Answer 19

Macrophages that look like crumpled tissue paper

Question 20

Findings in Niemann-Pick?

Answer 20

Progressive neurodegeneration
Hepatosplenomegaly
Cherry-red spot on macula

Question 21

What do you see histologically in Niemann-Pick?

Answer 21

Foam cells

Question 22

Findings in Tay-Sachs

Answer 22

Progressive Neurodegeneration
Developmental delay
Cherry-red spot on macula
Lysosomes with onion skin
NO hepatosplenomegaly

Question 23

Findings in Krabbe’s

Answer 23

Peripheral neuropathy
Development delay
Optic Atrophy
Globoid cells

Question 24

Findings in Metachromatic leukodystrophy

Answer 24

Central and peripheral demyelination with Ataxia & Dementia

Question 25

Findings in Hurler’s

Answer 25

Developmental delay
Gargoylism
Airway obstruction
Corneal Clouding
Hepatosplenomegaly

*Autosomal Recessive

Question 26

Findings in Hunter’s

Answer 26

Mild Hurler’s + aggressive behavior
NO corneal clouding

*X-linked Recessive

“Hunters see clearly (no corneal clouding) and aim for the X (X-linked recessive)”

Question 27

What group has an increased incidence of Tay-Sachs, Niemann-Pick, and forms of Gaucher’s

Answer 27

Ashkenazi Jews