Lipid Disorder

Front 1

name the enzyme defect with tay sachs disease

Back 1

Hex A

Front 2

name the accumulating substance with taysachs disease

Back 2

Gm2 ganglioside

Front 3

name the enzyme deficiency with sandhoff disease

Back 3

hex a and hex b

Front 4

name the accumulating substance with sandoff disease

Back 4

globoside; gm2 ganglioside

Front 5

name the enzyme deficiency with gaucher disease

Back 5

acid b glucosidase (glucocerebrosidase)

Front 6

name the accumulating substance with gaucher disease

Back 6

glucocerebrosides

Front 7

name the enzyme deficiency with fabry disease

Back 7

alpha glactosidase A

Front 8

name the accumulating substance with fabry disease

Back 8

globotriaosylceramide; also called ceramide trihexoside (CTH)

Front 9

name the enzyme deficiency with Niemann-Pick diseases Types A, and B Type c

Back 9

sphingomyelinase, NPC1 protein

Front 10

name the accumulating substance with Niemann Pick diease Types A and B and Type C

Back 10

sphingomyelins; LDL derived cholesterol

Front 11

Name the enzyme difency with Krabbe disease; globoid cell leukodystrophy (GLD)

Back 11

galactocerebrosidase

Front 12

name the accumulating substance with Krabbe disease; globoid cell leukodystrophy (GLD) disease

Back 12

galactocerebrosides

Front 13

Name the enzyme deffencey with Gw1 gangliosidfosis

Back 13

B-galactosidase-1

Front 14

name the accumulating substance with Gw1 gangliosidosis

Back 14

Gw1 ganliosides

Front 15

name the enzyme defect with methachromatic leukodystrophy sulftide lipodosis

Back 15

arysulfatase A

Front 16

name the accumulating substance with metachromatic leukodystrophy sulfatide lipodoss

Back 16

sulfatides

Front 17

name the enzyme defect with fucosidosis

Back 17

alpha fucosidase

Front 18

name the accumulating substance with fucosidosis

Back 18

pentahexosylfucoglycolipid

Front 19

name the enzyme defect with farber lipogranulomatosis

Back 19

acid ceramidase

Front 20

name the accumulating substance with farber lipogranulomatosis

Back 20

ceramides

Front 21

name the enzyme deficiency with aspartylglucosaminuria

Back 21

aspartylglucosaminidase (N aspartyl-B-glucosaminidase)

Front 22

name the enzyme deficiency with B mannosidosis

Back 22

B-mannosidase

Front 23

name the enzyme defiecny with a-mannsidosis

Back 23

a-mannosidase

Front 24

name the enzyme defect with Gm1 gangliosidosis

Back 24

B-galactosidase

Front 25

name the enzyme defect with sandhoff disease

Back 25

B-hexosaminidase A and B

Front 26

name the enzyme defect with sialidosis (alos identified as Mucolipidosis I)

Back 26

neuraminidase (sialidase)

Front 27

name the enzyme defect with fucosidosis

Back 27

a fucosidase