Enzyme Deficiency Diseases

Front 1

Von Gierke's dz (type I glycogen storage)

Back 1

glucose-6-phosphatase def;
severe fasting hypoglycemia;
highly increased liver glycogen;
increased blood lactate;
hepatomegaly

Front 2

Pompe's dz (type II glycogen storage)

Back 2

lysosomal a-1,4-glucosidase (acid maltase) def;
cardiomegaly;
large lysosomes compromise muscle function;
findings leading to early death

Front 3

Cori's dz (type III glycogen storage)

Back 3

a-1,6-glucosidase (debranching) def;
milder form of Von Gierke's with normal blood lactate levels

Front 4

McArdle's dz (type V glycogen storage)

Back 4

skeletal muscle glycogen phosphorylase def;
increased muscle glycogen --> painful muscle cramps, myoglobinuria with strenuous exercise

Front 5

Fabry's dz deficient enzyme and accumulated substrate

Back 5

a-glactosidase A
ceramide trihexoside

Front 6

Fabry's dz inheritance and findings

Back 6

XR
peripheral neuropathy of hands/feet
angiokeratomas
cardiovascular/renal dz

Front 7

mc lysosomal storage dz

Back 7

Gaucher's

Front 8

Gaucher's dz deficient enzyme and accumulated substrate

Back 8

b-glucocerebrosidase
glucocerebroside

Front 9

Gaucher's dz inheritance and findings

Back 9

AR
hepatosplenomegaly
aseptic necrosis of femur
bone crises
Gaucher's cells (macrophages that look like crumpled tissue paper)

Front 10

dz assoc. with macrophages that look like crumpled tissue paper

Back 10

Gaucher's dz

Front 11

Niemann-Pick dz deficient enzyme and accumulated substrate

Back 11

sphingomyelinase
sphingomyelin

Front 12

Niemann-Pick dz inheritance and findings

Back 12

AR
progressive neurodegeneration
hepatosplenomegaly
cherry-red spot on macula
foam cells

Front 13

dz assoc. with foamy or soap bubble appearance of macrophages

Back 13

Niemann-Pick dz

Front 14

Tay-Sachs dz deficient enzyme and accumulated substrate

Back 14

hexosaminidase A
GM2 ganglioside

Front 15

Tay-Sachs dz inheritance and findings

Back 15

AR
progressive neurodegeneration
developmental delay
cherry-red spot on macula
lysosomes with onion skin

Front 16

dz assoc. with lysosomes with onion skin

Back 16

Tay-Sachs dz

Front 17

Krabbe's dz deficient enzyme and accumulated substrate

Back 17

galactocerebrosidase (b-galactosidase)
galactocerebroside

Front 18

Krabbe's dz inheritance and findings

Back 18

AR
peripheral neuropathy
developmental delay
optic atrophy
globoid cells

Front 19

metachromatic leukodystrophy deficient enzyme and accumulated substrate

Back 19

arylsulfatase A
cerebroside sulfate

Front 20

metachromatic leukodystrophy inheritance and findings

Back 20

AR
central and peripheral demyelination with ataxia, dementia, hyporeflexia

Front 21

Hurler's sx deficient enzyme and accumulated substrate

Back 21

a-L-iduronidase
heparan sulfate and dermatan sulfate

Front 22

Hurler's sx inheritance and findings

Back 22

AR
developmental delay
gargoylism
airway obstruction
corneal clouding

Front 23

Hunter's sx deficient enzyme and accumulated substrate

Back 23

iduronate sulfatase
heparan sulfate and dermatan sulfate

Front 24

Hunter's sx inheritance and findings

Back 24

XR
mild Hurler's + aggressive behavior
no corneal clouding

Front 25

XR lysosomal storage dzs

Back 25

Fabry's dz
Hunter's sx

Front 26

apolipoprotein A-I function

Back 26

activates LCAT of HDL
cholesterol esterification

Front 27

apolipoprotein B-100 function

Back 27

binds LDL receptor (uptake by extrahepatic cells)
mediates VLDL secretion

Front 28

apolipoprotein C-II function

Back 28

cofactor for lipoprotein lipase
transferred from HDL to chylomicrons, VLDL

Front 29

apolipoprotein B-48 function

Back 29

mediates chylomicron secretion from intestinal cells

Front 30

apolipoprotein E function

Back 30

mediates remnant uptake (recognition factor for cell surface receptors)