Sphingolipidosis

Question 1

X-linked recessive

Answer 1

Fabry

Question 2

Reddish purple rash, kidney failure, heart failure, angiokeratoma

Answer 2

Fabry

Question 3

Build up of ceramide trihexoside

Answer 3

Fabry

Question 4

Inheritance of most sphingolipidosis

Answer 4

Autosomal recessive

Question 5

5 Autosomal recessive sphingolipidosis

Answer 5

Gaucher, Niemann Pick, Tay Sachs, Krabbe’s, Metachromatic lipidosis

Question 6

Hepatosplenomegaly, osteoporosis, crinkled appearance of cells

Answer 6

Gaucher

Question 7

Most benign Gaucher

Answer 7

Type I

Question 8

Beta glucocerebrosidase deficiency

Answer 8

Gaucher

Question 9

Build up of glucocerebroside in brain, liver, spleen, bone marrow

Answer 9

Gaucher

Question 10

Hepatosplenomegaly can be seen in both

Answer 10

Gaucher, Niemann Pick

Question 11

Hepatosplenomegaly, foamy cells, short life span (<3 yrs)

Answer 11

Niemann Pick

Question 12

Sphingomyelinase deficiency

Answer 12

Niemann Pick

Question 13

Build up of Sphingomyelin and Cholesterol in RES and parenchymal cells

Answer 13

Niemann Pick

Question 14

Blindness can be seen in both

Answer 14

Tay Sachs and Krabbe’s

Question 15

Blindness, cherry red macula, european jews, short life expectancy

Answer 15

Tay Sachs

Question 16

Build up of GM2 gangliosides

Answer 16

Tay Sachs

Question 17

Hexosaminidase A deficiency

Answer 17

Tay Sachs

Question 18

Blindness, deafness, convulsions, globoid cells, very short life span

Answer 18

Krabbe’s

Question 19

Galactocereboside build up

Answer 19

Krabbe’s

Question 20

Progressive paralysis

Answer 20

Metachromatic lipidosis

Question 21

Sulfatide build up

Answer 21

Metachromatic lipidosis