Quiz on Lipid Storage Diseases

An important finding in Refsum's disease is

• Accumulation of phytanic acid in the blood and tissues

• Accumulation of ceramide trihexoside in the kidney

• Skin eruptions

• Accumulation of gangliosides in brain and spleen

Refsum's disease is due to deficiency of the enzyme

• Ceramidetrihexosidase

• Galactocerebrosidase

• Phytanate-a-oxidase

• Glucocerebrosidase

α-Galactosidase enzyme is defective in

• Sandhoff's disease

• Refsum's disease

• Fabry's disease

• Tay-sachs disease

Tay-sach's disease is due to deficiency of

• ArylsulphataseA

• Sphingomyelinase

• Galactocerebrosidase

• HexosaminidaseA

An important finding in Tay-sach's disease is

• Renal failure

• Anemia

• Accumulation of gangliosides in brain and spleen

• Cardiac failure

The enzyme deficient in Krabbe's disease is

• a-Fucosidase

• ẞ-Galactosidase

• Arylsulphatase

• HexosaminidaseA

The enzyme ceramidase is deficient in

• Farber's disease

• Fabry's disease

• Sandhoff's disease

• Refsum's disease

Niemann-Pick disease is due to deficiency of the enzyme

• Ceramidase

• Sphingomyelinase

• Glucocerebrosidase

• Galactocerebrosidase

Wolman's disease is due to deficiency of

• Cholesterylester hydrolase

• HexosaminidaseA

• ArylsulphataseA

• a-Fucosidase

The enzyme deficient in Sandhoff's disease is

• a-Fucosidase

• HexosaminidaseA and B

• ẞ-Galactosidase

• ẞ-Glucosidase