Xxx - Bchm Vi - Storage Dz

Front 1

GLYCOGEN STORAGE DISORDER

- Von Gierke's etiology?

Back 1

Def. of Glycogen-6-Phosphatase

Front 2

GLYCOGEN STORAGE DISORDER

- Pompe's etiology?

Back 2

Def. of alpha-1,4-Glucosidase

Front 3

GLYCOGEN STORAGE DISORDER

- Cori's etiology?

Back 3

Def. of Debranching enzyme

Front 4

GLYCOGEN STORAGE DISORDER

- McArdle's etiology

Back 4

Def. of skeletal Glycogen Phosphorylase

Front 5

GLYCOGEN STORAGE DISORDER

- Von Gierke's findings? x3

Back 5

- FASTING Hypoglycemia

- Lactic acidosis

- Glycogen accumulation in LIVER
(thus hepatomegaly)

Front 6

GLYCOGEN STORAGE DISORDER

- Pompe's findings? x2

Back 6

- Cardiomegaly

- other Systemic findings (Liver & Muscles) leading to early death

Front 7

GLYCOGEN STORAGE DISORDER

- Cori's findings?

Back 7

- mild version of Von Gierke's Dz (FLG)

Front 8

GLYCOGEN STORAGE DISORDER

- McArdle's findings?

Back 8

Exercise-induced
- Myoglobinuria
- Painful cramps

Front 9

GLYCOGEN STORAGE DISORDER

- Debranching enzyme degrades what bonds?

- Debranching enzyme deficiency disease?

Back 9

- alpha-1,6 bonds
(of limit dextrans)

- Cori's disease

Front 10

GLYCOGEN STORAGE DISORDER

- which dz shows up increased levels of myoglobin in the urine?

Back 10

- McArdle's

(induced by exercise)

Front 11

GLYCOGEN STORAGE DISORDER

- which disease associated with an INTACT Gluconeogenesis?

Back 11

- Cori's dz

Front 12

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Fabry's disease

Back 12

(Fabulous Girls like to TRY Ceramics)

- Galactosidase A

Front 13

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Gaucher's disease

Back 13

(Goiter's Sweet Brain)

- Glucocerebrosidase

Front 14

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Niemann-Pick's Dz

Back 14

- Sphingomyelinase

Front 15

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Tay-Sach's Dz?

Back 15

- Hexosaminidase A

(sandhoff's is both A&B)

Front 16

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Krabbe's Dz?

Back 16

(Crabs have Girl Brains)

- Galactocerebrosidase

Front 17

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Metachromatic Leukodystrophy

Back 17

- Arylsulfatase A

Front 18

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Hurler's Dz?

Back 18

- Iduronidase

Front 19

LYSOSOMAL STORAGE DZ

- enzyme deficiency seen with Hunter's Dz

Back 19

- Iduronate Sulfatase

Front 20

LYSOSOMAL STORAGE DZ

- inheritance is _____, except for the diseases ______ & ______, which is ______.

Back 20

- AR

- Fabry's (sphingolipidoses)
- Hunter's (mucopolysaccaridoses)

- XLR

Front 21

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Fabry's

Back 21

(Fabulous Girls like to TRY Ceramics)

- Ceramide Trihexoside

Front 22

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Gaucher's Dz

Back 22

- Glucocerobrosides

Front 23

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Niemann-Pick's

Back 23

- Sphingomyelin

Front 24

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Tay-Sachs

Back 24

GM2, Gangliosides

Front 25

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Krabbe's dz

Back 25

- Galactocerebroside

Front 26

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Metachromatic Leukodystrophy

Back 26

- Cerebroside Sulfate

Front 27

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Hurler's Dz

Back 27

- Heparan Sulfate

- Dermatan Sulfate

Front 28

LYSOSOMAL STORAGE DZ

- accumulated substrates found in Hunter's Dz

Back 28

- Heparan Sulfate

- Dermatan Sulfate

Front 29

LYSOSOMAL STORAGE DZ

- which diseases have increased incidence in Ashkenazi Jews?

- which one does NOT have Hepatosplenomegaly?

- which one does NOT have Cherry-Red Macula?

Back 29

Tay-Sachs
(no hepatosplenomegaly)

Niemann-Picks

Gauchers
(no cherry red macula)

Front 30

LYSOSOMAL STORAGE DZ

- Hand/Feet neuropathy,
Angiokeratomas, and
CV/Renal diseases

Back 30

- Fabry's disease

Front 31

LYSOSOMAL STORAGE DZ

- Aseptic necrosis of femur,
bone crisis,
hepatosplenomegaly

Back 31

- Gaucher

Front 32

LYSOSOMAL STORAGE DZ

Progressive neurodegeneration
Cherry red macula

Hepatosplenomegaly

Back 32

- Niemann-Pick's Dz

(tay-sachs = no hepatosplenomegaly)

Front 33

LYSOSOMAL STORAGE DZ

Progressive neurodegernation
Cherry red macula

NO hepatosplenomegaly

Back 33

- Tay-Sach's

(niemann-picks = hepatosplenomegaly)

Front 34

LYSOSOMAL STORAGE DZ

- associated with Crumpled Tissue Paper Macrophages

Back 34

- Gaucher's

Front 35

LYSOSOMAL STORAGE DZ

- associated with Foam cells

Back 35

(niemann picks foamy boogers)

- Niemann-Picks

Front 36

LYSOSOMAL STORAGE DZ

- associated with Onion Skin Lysosomes

Back 36

- Tay-Sach's

Front 37

LYSOSOMAL STORAGE DZ

- associated with Globoid cells

Back 37

- Krabbe's

Front 38

LYSOSOMAL STORAGE DZ

- Optic Atrophy
Peripheral neuropathy
Developmental delays

Back 38

(crabs have Globe-like EYES)

- Krabbe's

Front 39

LYSOSOMAL STORAGE DZ

Demyelination of CNS & PNS
thus Ataxia
thus Dementia

Back 39

(leukodystrophy = myelin degeneration)

- Metachromatic Leukodystrophy

Front 40

LYSOSOMAL STORAGE DZ

Airway Obstruction
Gargoylism
Developmental delays

Corneal Clouding

Back 40

- Hurler's Dz

Front 41

LYSOSOMAL STORAGE DZ

- Hunter's Dz is a milder form of Hurler's Dz with what differences?

Back 41

- Aggressive Behavior

but

- NO Corneal Clouding

Front 42

LYSOSOMAL STORAGE DZ

These 2 diseases have Progressive Neurodegeneration & Cherry red macula

Differentiate btw the two how?

Back 42

- Tay-Sach's
- Niemann-Picks

Tay-Sachs= NO Hepatosplenomegaly
Niemann-Picks = Hepatosplenomegaly

Front 43

LYSOSOMAL STORAGE DZ

- GM2, Ganglioside accumulation

Back 43

- Tay-Sach's