KJZ Lysosomal Storage Diseases-PSXPG

Question 1

Deficient in Fabry’s disease

Answer 1

alpha-galactosidase A

Question 2

Accumulates in Fabry’s disease

Answer 2

Ceramide trihexoside in heart, brain, and kidneys

Question 3

X-linked recessive Lysosomal Storage Diseases

Answer 3

Fabry’s disease

Hunter’s disease

Question 4

Findings in Fabry’s disease

Answer 4

Renal failure, increased risk of stroke & MI

Question 5

Deficient in Krabbe’s disease

Answer 5

Galactosylceramidase (= absence of galactosylceramide & galactoside)

Question 6

Accumulates in Krabbe’s disease

Answer 6

Galactocerebroside in brain

Question 7

Findings in Krabbe’s disease

Answer 7

Optic atrophy, spasticity, early death

Question 8

Deficient in Gaucher’s disease

Answer 8

Glucocerebrosidase

Question 9

Accumulates in Gaucher’s disease

Answer 9

Glucocerebroside in brain, liver, spleen, and bone marrow

Question 10

Findings in Gaucher’s disease

Answer 10

Hepatosplenomegaly, anemia, thrombocytopenia, “crinkled paper” cells

Question 11

Deficient in Niemann-Pick disease

Answer 11

Sphingomyelinase

Question 12

Accumulates in Niemann-Pick disease

Answer 12

Sphingomyelin cholesterol in reticuloendothelial & parenchymal cells & tissues

Question 13

Findings in Niemann-Pick disease type A

Answer 13

Dead by age 3

Question 14

Deficient in Tay-Sachs disease

Answer 14

Hexosaminadase

Question 15

Accumulates in Tay-Sachs disease

Answer 15

GM2 ganglioside

Question 16

Findings in Tay-Sachs disease

Answer 16

Normal until 3-6 months of age, then weakness begins, development slows & regresses, exaggerated startle response, death by 3

Question 17

Deficient in metachromatic leukodystrophy

Answer 17

Arylsulfatase A

Question 18

Accumulates in metachromatic leukodystrophy

Answer 18

Sulfatide in the brain, kidney,liver, and peripheral nerves

Question 19

Deficient in Hurler’s syndrome

Answer 19

alpha-L-iduronidase

Question 20

Findings in Hurler’s syndrome

Answer 20

Corneal clouding & mental retardation

Question 21

Deficient in Hunter’s syndrome

Answer 21

Iduronate sulfatase

Question 22

Findings in Hunter’s syndrome

Answer 22

Mild mental retardation, no corneal clouding