Step 1 - Biochem - Storage Diseases

Front 1

What disease is deficient in a-galactosidase A?

Back 1

Fabry's disease

Front 2

What are the findings in Fabry's disease?

Back 2

Peripheral neuropathy (hands/feet), angiokeratomas, cardiovascular/renal disease

Front 3

What is the accumulated substrate in Fabry's disease?

Back 3

Ceramide trihexoside

Front 4

What are the physical findings when a-galactosidase A is deficient?

Back 4

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
(Fabry's disease)

Front 5

What are Gaucher's cells?

Back 5

Macrophages that look like crumpled up paper

Front 6

What are the clinical findings of Gaucher's disaese?

Back 6

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells

Front 7

What is the deficient enzyme in Gaucher's disease?

Back 7

B-glucocerebrosidase

Front 8

What disease is deficient in B-glucocerebrosidease?

Back 8

Gaucher's disease

Front 9

What is the accumulated substrate in Gaucher's disease?

Back 9

Glucocerebroside

Front 10

What are the clinical findings in Niemann-Pick disease?

Back 10

Foam cells, HSM

Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Front 11

What is the deficient enzyme in Niemann-Pick disease?

Back 11

Sphingomyelinase

Front 12

What is the accumulated substrate in Niemann-Pick disease?

Back 12

Sphingomyelin

Front 13

What disease is deficient in sphingomyelinase?

Back 13

Niemann-Pick disease

Front 14

What disease is deficient in hexosaminidase A?

Back 14

Tay-Sachs disease

Front 15

What are the physical findings in Tay-Sachs disease?

Back 15

Developmental delay, lysosomes with onion skinning

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin

Front 16

What is the deficient enzyme in Tay-Sachs disease?

Back 16

Hexosaminidase A

Front 17

What is the accumulated substrate in Tay-Sachs disease?

Back 17

GM2 ganglioside

Front 18

What disease accumulates GM2 ganglioside in its lysosomes?

Back 18

Tay-Sachs disease

Front 19

What disease is deficient in galactocerebrosidase?

Back 19

Krabbe's disease

Front 20

What disease accumulates galactocerebroside in its lysosomes?

Back 20

Krabbe's disease

Front 21

What are the clinical findings in Krabbe's disease?

Back 21

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells (macrophages with glycolipids in white matter/axons)

Front 22

What is the lysosomal storage disease where the physical findings are peripheral neuropathy, developmental delay, optic atrophy, and globoid cells?

Back 22

Krabbe's disease

Front 23

What lysosomal storage disease lacks Arylsulfatase A?

Back 23

Metachromic leukodystrophy

Front 24

What are the physical findings in metachromic leukodystrophy?

Back 24

Central and peripheral demyelination with ataxia, dementia

Front 25

What is the accumulated substrate in metachromic leukodystrophy?

Back 25

Cerebroside sulfate

Front 26

Aseptic necrosis of femur

Back 26

Gaucher's disease

Front 27

Foam cells

Back 27

Neimann-Pick

Front 28

Lysosomal onion skinning

Back 28

Tay-Sachs

Front 29

Cherry red spot on macula

Back 29

Tay-Sachs, GM1 Gangliosidosis

Front 30

Optic atrophy

Back 30

Krabbe's

Front 31

Globoid cells

Back 31

Krabbe's

Front 32

Demyelination, both CNS and PNS, resulting in ataxia

Back 32

Metachromic leukodystrophy

Front 33

"Bone crisis"

Back 33

Gaucher's disease

Front 34

Macrophages that look like crumpled up paper

Back 34

Gaucher's cells

Front 35

Angiokeratomas

Back 35

Fabry's disease

Front 36

Cardiovascular and renal disease

Back 36

Fabry's disease

Front 37

Peripheral neuropathy of hands and feet

Back 37

Fabry's disease

Front 38

These are the six sphingolipidioses

Back 38

Fabry's, Gaucher's, Niemann-Pick, Tay-Sachs, Krabbe's, Metachromatic leukodystrophy

Front 39

These are the two mucopolysaccharidoses

Back 39

Hurler's, Hunter's

Front 40

These are the four glycogen storage diseases

Back 40

Von Gierke's, Pompe's, Cori's, McArdle's
("Very Poor Carbohydrate Metabolism")

Front 41

These are the eight lyososomal storage diseases

Back 41

Fabry's, Gaucher's, Niemann-Pick, Tay-Sachs, Krabbe's, Metachromatic leukodystrophy, Hurler's, Hunter's

Front 42

What is the deficient enzyme in von Gierke's disease?

Back 42

Glucose-6-phosphatase (found only in the liver)

Front 43

What is the deficient enzyme in Pompe's disease?

Back 43

Lysosomal alpha-1,4-glucosidase
(cleaves linkages rather than branches)

Front 44

What is the deficient enzyme in Cori's disease?

Back 44

Alpha-1,6-glucosidase (debranching enzyme)

Front 45

What is the deficient enzyme in McArdle's disease?

Back 45

Glycogen phosphorlyase (of skeletal muscle)

Front 46

In which disease does glucose get stuck in the liver?

Back 46

Von Gierke's. G-6-P cannot be dephosphorylated, so it cannot be released

Front 47

In which disease does glycogen get stuck in cytosolic vacuoles?

Back 47

Pompe's disease.

Front 48

In which disease does glycogen get stuck in the cytosol (but not in vacuoles)?

Back 48

McArdle's disease.

Front 49

What are two important differences between von Gierke's and Cori's disease?

Back 49

Gluconeogenesis is intact in Cori's disease, which can be thought of as a milder form of von Gierke's disease.

Blood lactate is elevated in von Gierke's but not Cori's

Front 50

Glycogen storage disease associated with hepatomegaly

Back 50

Von Gierke's disease

Front 51

Glycogen storage disease associated with cardiomegaly

Back 51

Pompe's disease

Front 52

Glycogen storage disease associated with severe fasting hypoglycemia

Back 52

Von Gierke's disease

Front 53

Glycogen storage disease associated with myoglobinuria with strenuous exercise

Back 53

McArdle's disease.

Front 54

Glycogen storage disease associated with mild fasting hypoglycemia and normal blood lactate levels

Back 54

Cori's disease

Front 55

What disease is associated with gargoylism

Back 55

Hurler's syndrome

Front 56

What disesae is associated with airway obstruction

Back 56

Hurler's syndrome
(think of someone who cannot "hurl")

Front 57

Corneal clouding

Back 57

Hurler's syndrome

Front 58

Hepatosplenomegaly

Back 58

Hurler's, Gaucher's, von Gierke's, Niemann-Pick

Front 59

Aggressive behavior

Back 59

Hunter's syndrome

Front 60

What is the deficient enzyme in Hurler's syndrome?

Back 60

alpha-L-iduronidase

Front 61

What is the deficient enzyme in Hunter's syndrome?

Back 61

Iduronate sulfatase

Front 62

What is the accumulated substrate in Hurler's syndrome?

Back 62

Heparan sulfate, dermatan sulfate

Front 63

What is the accumulated substrate in Hunter's syndrome?

Back 63

Heparan sulfate, dermatan sulfate

Front 64

What is the accumulated substrate in von Gierke's disease?

Back 64

Glycogen and G-6-P (in liver)

Front 65

What is the accumulated substrate in Pompe's disease?

Back 65

Glycogen (in lysosomes of all cells)

Front 66

What is the accumulated substrate in Cori's disease?

Back 66

Glycogen (in liver)

Front 67

What is the accumulated substrate in McArdle's disease?

Back 67

Glycogen (in muscle)