Boards: Storage Dz

Front 1

what are the 4 glycogen stoarge diseases

Back 1

Very Poor Carbohydrate Metabolism: Von Gierke's, Pompe, Cori's disease, McArdle's disease

Front 2

what enzyme is deficient in Von Gierke's disease?

Back 2

G6P

Front 3

what enzyme is deficient in pompe's disease

Back 3

lysosomal alpha-1,4 glucosidase (acid maltase)

Front 4

what enzyme is deficient in Cori's disease

Back 4

debranching enzyme

Front 5

what enzyme is deficient in McArdle's disease?

Back 5

skeletal muscle glycogen phosphorylase

Front 6

Findings: severe fasting hypoglycemia, increased glycogen in the liver, increased blood lactate, hepatomegaly

Back 6

Von Gierke's

Front 7

Findings: cardiomegaly, early death

Back 7

Pompe

Front 8

Findings: fasting hypoglycemia, increased glycogen in the liver, hepatomegaly, normal blood lactate

Back 8

Cori's disease; Milder than Von Gierke's because Gluconeogenesis is intact

Front 9

findings: increased glycogen in muscle, painful cramps and myogluybinuria with exercise

Back 9

McArdle's disease

Front 10

deficient enzyme: alpha-galactosidase A

Back 10

fabry's disease - XR inheritance

Front 11

deficient enzyme: beta-glucocerebrosidase

Back 11

Gaucher's disease

Front 12

deficient enzyme: sphignomyelinase

Back 12

Niemann Pick dz

Front 13

deficient enzyme: Hexosaminidase A

Back 13

Tay-Sachs

Front 14

deficient enzyme: galactocerebrosidase

Back 14

krabbe

Front 15

deficient enzyme: arylsulfatase A

Back 15

Metachromatic leukodystrophy

Front 16

deficient enzyme: alpha-L-iduronidase

Back 16

Hurler's syndrome

Front 17

deficient enzyme: Iduronate sulfatase

Back 17

Hunter's syndrome - XR inheritance

Front 18

accumulation of GM2 ganglioside

Back 18

Tay-Sachs

Front 19

accumulation of dermatin sulfate

Back 19

Hurler's, Hunters and Scheie's

Front 20

in Ashkenazi Jews

Back 20

tay sachs, neimann pick, gauchers

Front 21

crinkled paper cytoplasm

Back 21

Gaucher's disease

Front 22

cerry-red spot on retina

Back 22

tay sacs or neimann pic

Front 23

deficiency in mannose phophorlyation

Back 23

I-cell

Front 24

Findings: corneal clouding, coarse face, HSM, skeletal abnormalitites, restricted joint movement

Back 24

I-cell

Front 25

does hurler's have corenal clouding or MR?

Back 25

both

Front 26

does hunter's have corneal clouding or MR?

Back 26

MR

Front 27

does scheie's have corneal clouding or MR?

Back 27

CC

Front 28

does I cell dz have corneal clouding or MR?

Back 28

CC +/- MR

Front 29

which lysosomal storage dx is demyelinating?

Back 29

Metachromatic leukodystrophy

Front 30

which lysosomal storage dz result in early death (usually by 3)?

Back 30

1. tay sachs, 2. niemann pick, 3. Krabbe

Front 31

which lysosomal storage dz is assoicagted with reanl failure?

Back 31

fabry - treat with dialysis

Front 32

what is the most common storage dz?

Back 32

Gaucher's disease