3.11 Sphigolipid Metabolism

Question 1

Lysosomal storage disease:

Accumulation of ceramide due to deficiency of ceramidase

Answer 1

Farber’s disease (painful and progressive joint deformity)

Question 2

Lysosomal storage disease:

Accumulation of sphingomyelin due to deficiency of sphingomyelinase

Answer 2

Miemann-Pick disease (hepatomegaly, foamy-appearing cells due to accumulation of sphingomyelin)

Question 3

Lysosomal storage disease:

Accumulation of galactocerebroside due to deficiency of galactocerebrosidase

Answer 3

Krabbe’s disease (mental and motor deterioration)

Question 4

Lysosomal storage disease:

Accumulation of GM1 due to deficinecy in beta galactosidase

Answer 4

Gangliosidosis (Neurological deterioration)

Question 5

Lysosomal storage disease:

Accumulation of GM2 due to deficiency in hexosaminidase A

Answer 5

Tay Sach’s disease (Rapid and progressive and fatal neurodegeneration, blindness, cherry-red macula, muscular weakness, seizures)

Question 6

Lysosomal storage disease:

Accumulation in globosides, deficiency in alpha galactosidase A

Answer 6

Fabry’s disease (reddish purple skin rash, kidney and heart failure)

Question 7

Lysosomal storage disease:

Accumuluation of glucocerebrosides, deficiency in beta glucosidase

Answer 7

Gaucher’s disease (most common, hepatosplenomegaly, oesteoporosis)

Question 8

Lysosomal storage disease:

Deficiency in arylsulfatase A

Answer 8

Metachromatic leukodystrophy

Question 9

Lysosomal storage disease:

Accumulation of globosides due to deficiency of hexosaminidase B

Answer 9

Sandhoff disease (same as tay sach’s)