Glycogen Storage Disease 109-111 Flashcards Preview

Biochemistry > Glycogen Storage Disease 109-111 > Flashcards

Flashcards in Glycogen Storage Disease 109-111 Deck (17):
1

What is the principle problem in Von Gierke's Disease? Why? From that, what are the symptoms that it would manifest? Is glucagon and epi treatment effective?

Can't get glucose out of the liver

Lack of glucose-6-phosphatase enzyme

Hypoglycemia, Increased glycogen in the liver, Increased lactate (anabolic reactions), Shunted as Triglycerides, Uric Acid

Fat Cheecks, Fat Liver (Hepatomegaly)

No

2

All Glycogen storage diseases are what type of genetics?

AR

3

Treatment for Von Gierke's Disease?

Oral Glucose (maintain normal glucose with uncooked starch)
Avoid fructose and galactose (decrease amount that the other pathways contribute to this)

4

Where is glycogen stored? (name 3) Where else is it also found in the fetus?

Skeletal muscle, cardiac muscle, Liver

Fetal Lung

5

What is the principle problem in Pompe's Disease? Why? From that, what are the symptoms that it would manifest? Easy way to remember this disease?

Can't break down glycogen

Do not have alpha 1,4 glucosidase (acid maltase)

Pompe trashes the pumps: Cardiac, Skeletal, Liver
Cardiomyopathy, Cardiomegaly, Exercise Intolerance

City of Pompe was killed early (infants die early)

6

What is the principle problem in Cori's Disease? Why? How do you diagnose this disease? Is gluconeogenesis intact?

Can't debranch glycogen=>can't fully digest all the carbs

Do Not have alpha 1,6 glucosidase

Dx: *short chain glycogen*

gluconeogenesis is intact
**Looks like a coral**

7

What is the principle problem in McArdle's Disease? Why? From that, what are the symptoms that it would manifest? Easy way to remember this disease?

Can't break down Glycogen in the skeletal muscles

Missing Glycogen Phosphorylase (myophosphorylase)

Can't supply muscle with energy=>ischemic=>creatinine kinase increased and myoglobinuria (red urine) during exercise

Glycogen not broken down=>no glucose=>lactic acid=>muscle cramps

"McCramp's Disease"

8

How do you differentiate between McArdle's disease and the other diseases? How do you treat it?

Normal Blood Glucose levels

B6

9

What is the principle problem in Krabbe's Disease? Why? How do you diagnose this disease and what are some features?

Galactocerebrosidase deficiency

Globoid Cells

10

What is the principle problem in Tay-Sachs Disease? What builds up? How do you diagnose this disease and what are some features?

Hexosaminidase

GM2 ganglioside builds up

Onion skinning of lysosomes
No hepatosplenomegaly

11

What is the principle problem in Niemann-Pick's Disease? What builds up? How do you diagnose this disease and what are some features?

Sphingomyelinase

Spingomyelin increased (Sphinger like finger to pick your nose)

Hepatosplenomegaly

12

What is the principle problem in Gaucher (Bro) Disease? What builds up? How do you diagnose this disease and what are some features?

GlucocereBROsidase (β-glucosidase)

GlucocereBROside

Erlenmeyer flask lesions-found in the long bones
Gaucher cells: lipid-laden macrophages resembling crumpled tissue paper


13

What is the principle problem in Fabry Disease? What builds up? How do you diagnose this disease and what are some features?

Ceramide trihexoside

α-galactosidase

X-linked recessive

14

What two diseases are x-linked recessive lysosomal storage diseases? Everything is?

Fabry
Hunter

Autosomal recessive

15

What is the principle problem in Hunter Disease? What builds up? How do you diagnose this disease and what are some features?

Iduronate sulfatase

Heparan sulfate, dermatan sulfate

No corneal clouding

16

What is the principle problem in Hurler's Disease? What builds up? How do you diagnose this disease and what are some features?

α-l-iduronidase

Heparan sulfate, dermatan sulfate

Corneal clouding

17

If you have a hyphen in the lysosomal storage diseases, what problems will you see?

Cherry Red Macula