Sphingolipidoses Diseases

Question 1

_____ disease is deficient in the enzyme Hexosaminidase A

Answer 1

Tay-Sachs

Question 2

The Lipid Accumulating in Tay-Sachs disease is a ________

Answer 2

GM2 Ganglioside

Question 3

The clinical symptoms for _______ disease are: mental retardation, blindness and muscular weakness

Answer 3

Tay-Sachs

Question 4

_____ disease is deficient in the enzyme alpha-Galactosidase

Answer 4

Fabry’s disease

Question 5

The Lipid Accumulating in Fabry’s disease is a ________

Answer 5

Globotriaosylceramide

Question 6

The clinical symptoms for _______ disease are: Skin rash, kidney failure (full symptoms only in males; X-linked recessive)

Answer 6

Fabry’s disease

Question 7

_____ disease is deficient in the enzyme Arylsulfatase A

Answer 7

Metachromatic leukodystrophy

Question 8

The Lipid Accumulating in Metachromatic leukodystrophy disease is a ________

Answer 8

3-Sulfogalactosylceramide

Question 9

The clinical symptoms for _______ disease are: Mental retardation and psychologic disturbances in adults; demyelination

Answer 9

Metachromatic leukodystrophy

Question 10

_____ disease is deficient in the enzyme Beta-Galactosidase

Answer 10

Krabbe’s Disease

Question 11

The Lipid Accumulating in Krabbe’s disease is a ________

Answer 11

Galactosylceramide

Question 12

The clinical symptoms for _______ disease are: Mental Retardation; Myelin almost absent

Answer 12

Krabbe’s disease

Question 13

The clinical symptoms for _______ disease are: Enlarged liver and spleen, erosion of long bones, mental retardation in infants

Answer 13

Gaucher’s disease

Question 14

The clinical symptoms for _______ disease are: Enlarged liver and spleen, mental retardation, fatal in early life

Answer 14

Niemann-Pick

Question 15

The clinical symptoms for _______ disease are: Hoarseness, dermatitis, skeletal deformation, mental retardation, fatal in early life

Answer 15

Farber’s disease

Question 16

_____ disease is deficient in the enzyme Beta-Glucosidase

Answer 16

Gaucher’s Disease

Question 17

_____ disease is deficient in the enzyme Sphingomyelinase

Answer 17

Niemann-Pick

Question 18

_____ disease is deficient in the enzyme Ceramidase

Answer 18

Farber’s disease

Question 19

The Lipid Accumulating in Gaucher’s disease is a ________

Answer 19

Glucosylceramide

Question 20

The Lipid Accumulating in Neimann-Pick disease is a ________

Answer 20

Sphinomyelin

Question 21

The Lipid Accumulating in Farber’s disease is a ________

Answer 21

Cermaide