Eom Test 4

Question 1

Tays sachs

Answer 1

Hexosaminidase A

Fail to degrade gangliosides. Accumulate fatty substance in nervous system which results in disability and death.

Question 2

Fabry’s disease

Answer 2

Alpha galactosidase

Question 3

Metachromatic leukodystrophy

Answer 3

Arylsulfatasa

Question 4

Krabbe’s disease

Answer 4

Beta galactosidase

Question 5

Gaucher’s disease

Answer 5

Beta glucosidase. Macrophages become filled w/ undigested glucocerebroside. Hepatosplenomegaly. Fatigue, bleeding probz, fragile bones.

Question 6

Niemann pick

Answer 6

Sphingomyelinase
Accumulation of sphingomyelin.
Type A - infancy. Enlarged liver and spleen. Fail to thrive.
Type b less severe
Type c not dx'd til adulthood.

Question 7

Farber’s disease

Answer 7

Ceramidase